Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA259369495

Gene:

Linked Data

dbSNP Id: rs967284907

gnomAD v3: 14-36384983-A-C

gnomAD v4: 14-36384983-A-C

MyVariant Identifiers: chr14:g.36854188A>C (hg19) chr14:g.36384983A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36384983A>C , CM000676.2:g.36384983A>C	GRCh38
NC_000014.8:g.36854188A>C , CM000676.1:g.36854188A>C	GRCh37
NC_000014.7:g.35923939A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011537428.1:c.319-12176A>C	XP_011535730.1:n.319-12176A>C
XR_943756.1:n.358+23887A>C

Search 100 bp 5'

Search 100 bp 3'