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.
exac.transcript
Local identifiers in ExAC Transcript should match this
regular expression:
^ENST\d{11}$
Compact URIs (CURIEs) constructed from ExAC Transcript should match
this regular expression:
^exac\.transcript:ENST\d{11}$
Mappings from records in Bioregistry to external registries comprises the metaregistry. This resource has 3 mappings to external registries with 1 unique external prefixes.
| Registry Name | Registry Metaprefix | External Prefix | Curate |
|---|---|---|---|
| BioContext | biocontext |
EXAC.TRANSCRIPT
|
|
Identifiers.org
|
miriam |
exac.transcript
|
|
N2T
|
n2t |
exac.transcript
|
A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).
The local unique identifier ENST00000407236 is used to demonstrate the providers
available for ExAC Transcript. Some providers may use a different example, which is displayed in the table below.
A guide for curating additional providers can be found
here.
| Provider Name | Provider Code | 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 |