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: CA705306360

Gene:

Linked Data

dbSNP Id: rs1239627788

gnomAD v3: 14-36384858-G-A

gnomAD v4: 14-36384858-G-A

MyVariant Identifiers: chr14:g.36854063G>A (hg19) chr14:g.36384858G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36384858G>A , CM000676.2:g.36384858G>A	GRCh38
NC_000014.8:g.36854063G>A , CM000676.1:g.36854063G>A	GRCh37
NC_000014.7:g.35923814G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011537428.1:c.319-12301G>A	XP_011535730.1:n.319-12301G>A
XR_943756.1:n.358+23762G>A

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