Canonical Allele Identifier: CA2621193548

Gene: NOS1

Linked Data

• gnomAD v4: 12-117215070-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117215070A>G , CM000674.2:g.117215070A>G	GRCh38
NC_000012.11:g.117652875A>G , CM000674.1:g.117652875A>G	GRCh37
NC_000012.10:g.116137258A>G	NCBI36
NG_011991.2:g.151708T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.*239T>C MANE Select	ENSP00000320758.6:n.*239T>C
ENST00000317775.10:c.*239T>C	ENSP00000320758.6:n.*239T>C
ENST00000618760.4:c.*239T>C	ENSP00000477999.1:n.*239T>C
NM_000620.4:c.*239T>C	NP_000611.1:n.*239T>C
NM_001204213.1:c.*239T>C	NP_001191142.1:n.*239T>C
NM_001204214.1:c.*239T>C	NP_001191143.1:n.*239T>C
NM_001204218.1:c.*239T>C	NP_001191147.1:n.*239T>C
XM_011538398.1:c.*239T>C	XP_011536700.1:n.*239T>C
NM_000620.5:c.*239T>C MANE Select	NP_000611.1:n.*239T>C
NM_001204213.2:c.*239T>C	NP_001191142.1:n.*239T>C
NM_001204214.2:c.*239T>C	NP_001191143.1:n.*239T>C
NM_001204218.2:c.*239T>C	NP_001191147.1:n.*239T>C