Canonical Allele Identifier: CA2685608057
Gene: NOS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151003871G>T , CM000669.2:g.151003871G>T GRCh38
NC_000007.13:g.150700959G>T , CM000669.1:g.150700959G>T GRCh37
NC_000007.12:g.150331892G>T NCBI36
NG_011992.1:g.17813G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297494.8:c.1752+1567G>T MANE Select ENSP00000297494.3:n.1752+1567G>T
ENST00000297494.7:c.1752+1567G>T ENSP00000297494.3:n.1752+1567G>T
ENST00000461406.5:c.1134+1567G>T ENSP00000417143.1:n.1134+1567G>T
ENST00000467517.1:c.2313G>T ENSP00000420551.1:n.2313G>T
ENST00000484524.5:c.2473G>T ENSP00000420215.1:n.2473G>T
NM_000603.4:c.1752+1567G>T NP_000594.2:n.1752+1567G>T
NM_001160109.1:c.1967G>T NP_001153581.1:n.1967G>T
NM_001160110.1:c.2313G>T NP_001153582.1:n.2313G>T
NM_001160111.1:c.2473G>T NP_001153583.1:n.2473G>T
XM_006716002.2:c.1752+1567G>T XP_006716065.1:n.1752+1567G>T
NM_000603.5:c.1752+1567G>T MANE Select NP_000594.2:n.1752+1567G>T
NM_001160109.2:c.*176G>T NP_001153581.1:n.*176G>T