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
^ENST\d{11}$
Namespace in Pattern
False
Example Identifier
ENST00000407236   Resolve
Metaregistry

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

Registry Name Metaprefix Metaidentifier
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 URL
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