Canonical Allele Identifier: CA952274795

Gene: NOS1

Linked Data

• dbSNP Id: rs1873752160
• gnomAD v3: 12-117300560-G-C
• gnomAD v4: 12-117300560-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117300560G>C , CM000674.2:g.117300560G>C	GRCh38
NC_000012.11:g.117738365G>C , CM000674.1:g.117738365G>C	GRCh37
NC_000012.10:g.116222748G>C	NCBI36
NG_011991.2:g.66218C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.853-10134C>G MANE Select	ENSP00000320758.6:n.853-10134C>G
ENST00000317775.10:c.853-10134C>G	ENSP00000320758.6:n.853-10134C>G
ENST00000338101.8:c.853-10134C>G	ENSP00000337459.4:n.853-10134C>G
ENST00000344089.4:c.850-10134C>G	ENSP00000339862.4:n.850-10134C>G
ENST00000618760.4:c.853-10134C>G	ENSP00000477999.1:n.853-10134C>G
NM_000620.4:c.853-10134C>G	NP_000611.1:n.853-10134C>G
NM_001204213.1:c.-157+1456C>G	NP_001191142.1:n.-157+1456C>G
NM_001204214.1:c.-157+1456C>G	NP_001191143.1:n.-157+1456C>G
NM_001204218.1:c.853-10134C>G	NP_001191147.1:n.853-10134C>G
XM_011538398.1:c.853-10134C>G	XP_011536700.1:n.853-10134C>G
NM_000620.5:c.853-10134C>G MANE Select	NP_000611.1:n.853-10134C>G
NM_001204213.2:c.-157+1456C>G	NP_001191142.1:n.-157+1456C>G
NM_001204214.2:c.-157+1456C>G	NP_001191143.1:n.-157+1456C>G
NM_001204218.2:c.853-10134C>G	NP_001191147.1:n.853-10134C>G