Canonical Allele Identifier: CA244238007

Gene: NOS1

Linked Data

• dbSNP Id: rs746833364
• gnomAD v3: 12-117215063-T-G
• gnomAD v4: 12-117215063-T-G
• MyVariant Identifiers: chr12:g.117652868T>G (hg19) ; chr12:g.117215063T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117215063T>G , CM000674.2:g.117215063T>G	GRCh38
NC_000012.11:g.117652868T>G , CM000674.1:g.117652868T>G	GRCh37
NC_000012.10:g.116137251T>G	NCBI36
NG_011991.2:g.151715A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.*246A>C MANE Select	ENSP00000320758.6:n.*246A>C
ENST00000317775.10:c.*246A>C	ENSP00000320758.6:n.*246A>C
ENST00000618760.4:c.*246A>C	ENSP00000477999.1:n.*246A>C
NM_000620.4:c.*246A>C	NP_000611.1:n.*246A>C
NM_001204213.1:c.*246A>C	NP_001191142.1:n.*246A>C
NM_001204214.1:c.*246A>C	NP_001191143.1:n.*246A>C
NM_001204218.1:c.*246A>C	NP_001191147.1:n.*246A>C
XM_011538398.1:c.*246A>C	XP_011536700.1:n.*246A>C
NM_000620.5:c.*246A>C MANE Select	NP_000611.1:n.*246A>C
NM_001204213.2:c.*246A>C	NP_001191142.1:n.*246A>C
NM_001204214.2:c.*246A>C	NP_001191143.1:n.*246A>C
NM_001204218.2:c.*246A>C	NP_001191147.1:n.*246A>C