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: CA1013241760

Gene: AGT HGNC NCBI

Linked Data

dbSNP Id: rs1663736599

gnomAD v3: 1-230716337-C-T

gnomAD v4: 1-230716337-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230716337C>T , CM000663.2:g.230716337C>T	GRCh38
NC_000001.10:g.230852083C>T , CM000663.1:g.230852083C>T	GRCh37
NC_000001.9:g.228918706C>T	NCBI36
NG_008836.1:g.3254G>A
NG_008836.2:g.3254G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681269.1:c.-30-5484G>A	ENSP00000505985.1:n.-30-5484G>A
NM_001382817.3:c.-30-5484G>A	NP_001369746.2:n.-30-5484G>A

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