Canonical Allele Identifier: CA952292764

Gene: NOS1

Linked Data

• dbSNP Id: rs1876002473
• gnomAD v3: 12-117339630-T-A
• gnomAD v4: 12-117339630-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117339630T>A , CM000674.2:g.117339630T>A	GRCh38
NC_000012.11:g.117777435T>A , CM000674.1:g.117777435T>A	GRCh37
NC_000012.10:g.116261818T>A	NCBI36
NG_011991.2:g.27148A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.-420-8141A>T MANE Select	ENSP00000320758.6:n.-420-8141A>T
ENST00000317775.10:c.-420-8141A>T	ENSP00000320758.6:n.-420-8141A>T
ENST00000549189.1:n.471-8141A>T
ENST00000618760.4:c.-420-8141A>T	ENSP00000477999.1:n.-420-8141A>T
NM_000620.4:c.-420-8141A>T	NP_000611.1:n.-420-8141A>T
NM_001204218.1:c.-420-8141A>T	NP_001191147.1:n.-420-8141A>T
XM_011538398.1:c.-420-8141A>T	XP_011536700.1:n.-420-8141A>T
NM_000620.5:c.-420-8141A>T MANE Select	NP_000611.1:n.-420-8141A>T
NM_001204218.2:c.-420-8141A>T	NP_001191147.1:n.-420-8141A>T