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: CA684138727

Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1479928304

gnomAD v3: 12-117439612-T-A

gnomAD v4: 12-117439612-T-A

MyVariant Identifiers: chr12:g.117877417T>A (hg19) chr12:g.117439612T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117439612T>A , CM000674.2:g.117439612T>A	GRCh38
NC_000012.11:g.117877417T>A , CM000674.1:g.117877417T>A	GRCh37
NC_000012.10:g.116361800T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000549189.1:n.470+12089A>T

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