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Symbol report for PYGM

Stable symbol

HGNC data for PYGM

Approved symbol
PYGM
Approved name

glycogen phosphorylase, muscle associated

Locus type
gene with protein product
HGNC ID
HGNC:9726
Symbol status
Approved
Previous names
phosphorylase, glycogen; muscle
Alias symbols
GSD5
Alias names
McArdle syndrome
glycogen storage disease type V
glycogen phosphorylase, muscle form
myophosphorylase
Chromosomal location
11q13.1
Gene groups
Gene resources for PYGM
Ensembl
ENSG00000068976 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
5837 Curated
UCSC
uc001oax.5
Alliance of Genome Resources
HGNC:9726
Nucleotide resources for PYGM
MANE Select
NM_005609.4
ENST00000164139.4
RefSeq
NM_005609 Curated
NCBI sequence viewer
CCDS
CCDS8079 Curated
CCDS53659 Curated
Protein resources for PYGM
UniProt/Swiss-Prot
P11217
InterProPDBeReactome
AlphaFold
AF-P11217-F1
Enzyme Commission
2.4.1.1 Curated
ExpasyBRENDAKEGGIntEnzIUBMB Enzyme Nomenclature
Orthologs from selected species for PYGM
Bos taurus
PYGM VGNC:33589 VGNC
Canis familiaris
PYGM VGNC:45226 VGNC
Equus caballus
PYGM VGNC:22063 VGNC
Felis catus
PYGM VGNC:69194 VGNC
Macaca mulatta
PYGM VGNC:76633 VGNC
Mus musculus
Pygm MGI:97830 Curated
Pan troglodytes
PYGM VGNC:57279 VGNC
Rattus norvegicus
Pygm RGD:3461
Sus scrofa
PYGM VGNC:92020 VGNC
Clinical resources for PYGM
OMIM
608455
GenCC
HGNC:9726
MedlinePlus
Search via PYGM
DECIPHER
Search via PYGM
ClinGen
Search via HGNC:9726
Genetic Testing Registry
Search via NCBI Gene ID 5837
ClinVar
Search via NCBI Gene ID 5837
dbVar
Search via NCBI Gene ID 5837
Orphanet
118182
Other resources for PYGM
AmiGO
Search via P11217
QuickGO
Search via P11217
BioGPS
Search via NCBI Gene ID 5837
GeneCards
Search via HGNC:9726
Monarch
Search via HGNC:9726
WikiGenes
Search via NCBI Gene ID 5837
References for PYGM