Human (GRCh38.p14)
Description

huntingtin [Source:HGNC Symbol;Acc:HGNC:4851]

Gene Synonyms

HD, IT15

Location

Chromosome 4: 3,041,363-3,243,957 forward strand.

GRCh38:CM000666.2

About this gene

This gene has 23 transcripts (splice variants), 203 orthologues and is associated with 5 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000355072.11HTT-201134723142aaENSP00000347184.5
 
Protein coding
CCDS43206P42858 NM_001388492.1MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P2TSL:1
ENST00000681528.1HTT-223140333086aaENSP00000506116.1
 
Protein coding
A0A7P0TAC5 -GENCODE basic
ENST00000680956.1HTT-222139433056aaENSP00000506029.1
 
Protein coding
A0A7P0TA78 -GENCODE basicAPPRIS ALT2
ENST00000509618.1HTT-205429112aaENSP00000425743.1
 
Protein coding
H0YA07 -TSL:3CDS 5' incomplete
ENST00000649131.1HTT-21528997aaENSP00000497424.1
 
Protein coding
A0A3B3ISR3 -CDS 5' and 3' incomplete
ENST00000680360.1HTT-221139842191aaENSP00000505014.1
 
Nonsense mediated decay
A0A7P0Z417 --
ENST00000680239.1HTT-219138342880aaENSP00000506169.1
 
Nonsense mediated decay
A0A7P0TAN5 --
ENST00000650588.1HTT-21750375aaENSP00000497844.1
 
Nonsense mediated decay
A0A3B3IU25 -CDS 5' incomplete
ENST00000650595.1HTT-21839075aaENSP00000497994.1
 
Nonsense mediated decay
A0A3B3IU25 -CDS 5' incomplete
ENST00000647962.1HTT-2131324No protein-
 
Protein coding CDS not defined
---
ENST00000649900.1HTT-216587No protein-
 
Protein coding CDS not defined
---
ENST00000513806.1HTT-212432No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000648150.1HTT-214331No protein-
 
Protein coding CDS not defined
---
ENST00000510626.5HTT-20714438No protein-
 
Retained intron
--TSL:1
ENST00000680291.1HTT-2207184No protein-
 
Retained intron
---
ENST00000506137.1HTT-202781No protein-
 
Retained intron
--TSL:3
ENST00000509751.1HTT-206723No protein-
 
Retained intron
--TSL:3
ENST00000512909.1HTT-209611No protein-
 
Retained intron
--TSL:3
ENST00000512068.1HTT-208401No protein-
 
Retained intron
--TSL:3
ENST00000508321.1HTT-203386No protein-
 
Retained intron
--TSL:3
ENST00000509043.1HTT-204380No protein-
 
Retained intron
--TSL:2
ENST00000513326.5HTT-210373No protein-
 
Retained intron
--TSL:2
ENST00000513639.5HTT-211259No protein-
 
Retained intron
--TSL:2