Canonical Allele Identifier: CA4566633

Gene: NOS3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150996848G>A , CM000669.2:g.150996848G>A	GRCh38
NC_000007.13:g.150693936G>A , CM000669.1:g.150693936G>A	GRCh37
NC_000007.12:g.150324869G>A	NCBI36
NG_011992.1:g.10790G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000603.5:c.505G>A MANE Select	NP_000594.2:p.Glu169Lys
ENST00000297494.8:c.505G>A MANE Select	ENSP00000297494.3:p.Glu169Lys
NM_000603.4:c.505G>A	NP_000594.2:p.Glu169Lys
NM_001160109.1:c.505G>A	NP_001153581.1:p.Glu169Lys
NM_001160109.2:c.505G>A	NP_001153581.1:p.Glu169Lys
NM_001160110.1:c.505G>A	NP_001153582.1:p.Glu169Lys
NM_001160111.1:c.505G>A	NP_001153583.1:p.Glu169Lys
ENST00000297494.7:c.505G>A	ENSP00000297494.3:p.Glu169Lys
ENST00000461406.5:c.-36-1509G>A	ENSP00000417143.1:n.-36-1509G>A
ENST00000467517.1:c.505G>A	ENSP00000420551.1:p.Glu169Lys
ENST00000484524.5:c.505G>A	ENSP00000420215.1:p.Glu169Lys
XM_006716002.2:c.505G>A	XP_006716065.1:p.Glu169Lys