The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. The data pertains to unrelated individuals sequenced as part of various disease-specific and population genetic studies and serves as a reference set of allele frequencies for severe disease studies. This collection references transcript information.

Prefix
exac.transcript
Links
Homepage
Contact
Missing Contact
Pattern for Local Unique Identifiers

Local identifiers in ExAC Transcript should match this regular expression:
^ENST\d{11}$

Example Local Unique Identifier
ENST00000407236   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from ExAC Transcript should match this regular expression:
^exac.transcript:ENST\d{11}$

Example CURIE
exac.transcript:ENST00000407236
Metaregistry

The metaregistry provides mappings between the Bioregistry and other registries. There are 3 mappings to external registries for exac.transcript.

Registry Name Metaprefix External Prefix
Identifiers.org miriam exac.transcript
Name-to-Thing n2t exac.transcript
Prefix Commons prefixcommons EXAC.TRANSCRIPT
Providers

Providers are various services that resolve CURIEs to URLs. The example CURIE exac.transcript:ENST00000407236 is used to demonstrate the provides available for exac.transcript. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name Metaprefix URI
ExAC Transcript exac.transcript http://exac.broadinstitute.org/transcript/ENST00000407236
Bioregistry bioregistry https://bioregistry.io/exac.transcript:ENST00000407236
Identifiers.org miriam https://identifiers.org/exac.transcript:ENST00000407236
Name-to-Thing n2t https://n2t.net/exac.transcript:ENST00000407236