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: CA289077553

Gene: NOS2 HGNC NCBI

Linked Data

dbSNP Id: rs777109777

gnomAD v3: 17-27801562-G-A

gnomAD v4: 17-27801562-G-A

MyVariant Identifiers: chr17:g.26128588G>A (hg19) chr17:g.27801562G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27801562G>A , CM000679.2:g.27801562G>A	GRCh38
NC_000017.10:g.26128588G>A , CM000679.1:g.26128588G>A	GRCh37
NC_000017.9:g.23152715G>A	NCBI36
NG_011470.1:g.3968C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000582441.1:c.438+2561C>T	ENSP00000462879.1:n.438+2561C>T
XM_011524859.1:c.-74+2561C>T	XP_011523161.1:n.-74+2561C>T

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