Canonical Allele Identifier: CA684137490

Gene: NOS1

Linked Data

• dbSNP Id: rs1291860418
• MyVariant Identifiers: chr12:g.117795932T>C (hg19) ; chr12:g.117358127T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117358127T>C , CM000674.2:g.117358127T>C	GRCh38
NC_000012.11:g.117795932T>C , CM000674.1:g.117795932T>C	GRCh37
NC_000012.10:g.116280315T>C	NCBI36
NG_011991.2:g.8651A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.-421+3385A>G MANE Select	ENSP00000320758.6:n.-421+3385A>G
ENST00000317775.10:c.-421+3385A>G	ENSP00000320758.6:n.-421+3385A>G
ENST00000477584.1:n.118+3385A>G
ENST00000549189.1:n.471-26638A>G
ENST00000618760.4:c.-421+3385A>G	ENSP00000477999.1:n.-421+3385A>G
NM_000620.4:c.-421+3385A>G	NP_000611.1:n.-421+3385A>G
NM_001204218.1:c.-421+3385A>G	NP_001191147.1:n.-421+3385A>G
XM_011538398.1:c.-421+864A>G	XP_011536700.1:n.-421+864A>G
NM_000620.5:c.-421+3385A>G MANE Select	NP_000611.1:n.-421+3385A>G
NM_001204218.2:c.-421+3385A>G	NP_001191147.1:n.-421+3385A>G