Canonical Allele Identifier: CA244237939

Gene: NOS1

Linked Data

• dbSNP Id: rs568478310
• gnomAD v3: 12-117214971-G-A
• gnomAD v4: 12-117214971-G-A
• MyVariant Identifiers: chr12:g.117652776G>A (hg19) ; chr12:g.117214971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117214971G>A , CM000674.2:g.117214971G>A	GRCh38
NC_000012.11:g.117652776G>A , CM000674.1:g.117652776G>A	GRCh37
NC_000012.10:g.116137159G>A	NCBI36
NG_011991.2:g.151807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.*338C>T MANE Select	ENSP00000320758.6:n.*338C>T
ENST00000317775.10:c.*338C>T	ENSP00000320758.6:n.*338C>T
ENST00000618760.4:c.*338C>T	ENSP00000477999.1:n.*338C>T
NM_000620.4:c.*338C>T	NP_000611.1:n.*338C>T
NM_001204213.1:c.*338C>T	NP_001191142.1:n.*338C>T
NM_001204214.1:c.*338C>T	NP_001191143.1:n.*338C>T
NM_001204218.1:c.*338C>T	NP_001191147.1:n.*338C>T
XM_011538398.1:c.*338C>T	XP_011536700.1:n.*338C>T
NM_000620.5:c.*338C>T MANE Select	NP_000611.1:n.*338C>T
NM_001204213.2:c.*338C>T	NP_001191142.1:n.*338C>T
NM_001204214.2:c.*338C>T	NP_001191143.1:n.*338C>T
NM_001204218.2:c.*338C>T	NP_001191147.1:n.*338C>T