Canonical Allele Identifier: CA369864754
Gene: NOS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151010911C>A , CM000669.2:g.151010911C>A GRCh38
NC_000007.13:g.150707999C>A , CM000669.1:g.150707999C>A GRCh37
NC_000007.12:g.150338932C>A NCBI36
NG_011992.1:g.24853C>A
NG_030317.1:g.18589G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297494.8:c.2909C>A MANE Select ENSP00000297494.3:p.Pro970His
ENST00000297494.7:c.2909C>A ENSP00000297494.3:p.Pro970His
ENST00000461406.5:c.2291C>A ENSP00000417143.1:p.Pro764His
ENST00000468293.5:n.392C>A
ENST00000475017.1:c.790C>A
ENST00000477227.1:n.288C>A
NM_000603.4:c.2909C>A NP_000594.2:p.Pro970His
NM_000603.5:c.2909C>A MANE Select NP_000594.2:p.Pro970His