Canonical Allele Identifier: CA13603850

Gene: NOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117270390G>A , CM000674.2:g.117270390G>A	GRCh38
NC_000012.11:g.117708195G>A , CM000674.1:g.117708195G>A	GRCh37
NC_000012.10:g.116192578G>A	NCBI36
NG_011991.2:g.96388C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000620.5:c.1839+1995C>T MANE Select	NP_000611.1:n.1839+1995C>T
ENST00000317775.11:c.1839+1995C>T MANE Select	ENSP00000320758.6:n.1839+1995C>T
NM_000620.4:c.1839+1995C>T	NP_000611.1:n.1839+1995C>T
NM_001204213.1:c.831+1995C>T	NP_001191142.1:n.831+1995C>T
NM_001204213.2:c.831+1995C>T	NP_001191142.1:n.831+1995C>T
NM_001204214.1:c.831+1995C>T	NP_001191143.1:n.831+1995C>T
NM_001204214.2:c.831+1995C>T	NP_001191143.1:n.831+1995C>T
NM_001204218.1:c.1839+1995C>T	NP_001191147.1:n.1839+1995C>T
NM_001204218.2:c.1839+1995C>T	NP_001191147.1:n.1839+1995C>T
ENST00000317775.10:c.1839+1995C>T	ENSP00000320758.6:n.1839+1995C>T
ENST00000338101.8:c.1839+1995C>T	ENSP00000337459.4:n.1839+1995C>T
ENST00000344089.4:c.1836+1995C>T	ENSP00000339862.4:n.1836+1995C>T
ENST00000618760.4:c.1839+1995C>T	ENSP00000477999.1:n.1839+1995C>T
XM_011538398.1:c.1839+1995C>T	XP_011536700.1:n.1839+1995C>T