Canonical Allele Identifier: CA2797627580

Gene: NOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117358020T>C , CM000674.2:g.117358020T>C	GRCh38
NC_000012.11:g.117795825T>C , CM000674.1:g.117795825T>C	GRCh37
NC_000012.10:g.116280208T>C	NCBI36
NG_011991.2:g.8758A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.-421+3492A>G MANE Select	ENSP00000320758.6:n.-421+3492A>G
ENST00000317775.10:c.-421+3492A>G	ENSP00000320758.6:n.-421+3492A>G
ENST00000477584.1:n.118+3492A>G
ENST00000549189.1:n.471-26531A>G
ENST00000618760.4:c.-421+3492A>G	ENSP00000477999.1:n.-421+3492A>G
NM_000620.4:c.-421+3492A>G	NP_000611.1:n.-421+3492A>G
NM_001204218.1:c.-421+3492A>G	NP_001191147.1:n.-421+3492A>G
XM_011538398.1:c.-421+971A>G	XP_011536700.1:n.-421+971A>G
NM_000620.5:c.-421+3492A>G MANE Select	NP_000611.1:n.-421+3492A>G
NM_001204218.2:c.-421+3492A>G	NP_001191147.1:n.-421+3492A>G