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: CA982708874

Gene: NOS2 HGNC NCBI

Linked Data

dbSNP Id: rs1909548564

gnomAD v3: 17-27801456-G-T

gnomAD v4: 17-27801456-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27801456G>T , CM000679.2:g.27801456G>T	GRCh38
NC_000017.10:g.26128482G>T , CM000679.1:g.26128482G>T	GRCh37
NC_000017.9:g.23152609G>T	NCBI36
NG_011470.1:g.4074C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000582441.1:c.439-2574C>A	ENSP00000462879.1:n.439-2574C>A
XM_011524859.1:c.-73-2574C>A	XP_011523161.1:n.-73-2574C>A

Search 100 bp 5'

Search 100 bp 3'