Canonical Allele Identifier: CA2621193416

Gene: NOS1

Linked Data

• gnomAD v4: 12-117214951-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117214951T>C , CM000674.2:g.117214951T>C	GRCh38
NC_000012.11:g.117652756T>C , CM000674.1:g.117652756T>C	GRCh37
NC_000012.10:g.116137139T>C	NCBI36
NG_011991.2:g.151827A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.*358A>G MANE Select	ENSP00000320758.6:n.*358A>G
ENST00000317775.10:c.*358A>G	ENSP00000320758.6:n.*358A>G
ENST00000618760.4:c.*358A>G	ENSP00000477999.1:n.*358A>G
NM_000620.4:c.*358A>G	NP_000611.1:n.*358A>G
NM_001204213.1:c.*358A>G	NP_001191142.1:n.*358A>G
NM_001204214.1:c.*358A>G	NP_001191143.1:n.*358A>G
NM_001204218.1:c.*358A>G	NP_001191147.1:n.*358A>G
XM_011538398.1:c.*358A>G	XP_011536700.1:n.*358A>G
NM_000620.5:c.*358A>G MANE Select	NP_000611.1:n.*358A>G
NM_001204213.2:c.*358A>G	NP_001191142.1:n.*358A>G
NM_001204214.2:c.*358A>G	NP_001191143.1:n.*358A>G
NM_001204218.2:c.*358A>G	NP_001191147.1:n.*358A>G