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: CA60590261

Gene: GAD1 HGNC NCBI

Linked Data

dbSNP Id: rs900962372

gnomAD v2: 2-171670857-A-C

gnomAD v3: 2-170814347-A-C

gnomAD v4: 2-170814347-A-C

MyVariant Identifiers: chr2:g.171670857A>C (hg19) chr2:g.170814347A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.170814347A>C , CM000664.2:g.170814347A>C	GRCh38
NC_000002.11:g.171670857A>C , CM000664.1:g.171670857A>C	GRCh37
NC_000002.10:g.171379103A>C	NCBI36
NG_021477.1:g.2658A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000454603.5:c.-64+925A>C	ENSP00000402366.1:n.-64+925A>C
XM_011510922.1:c.-64+925A>C	XP_011509224.1:n.-64+925A>C

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