Canonical Allele Identifier: CA395993210
Gene: NUP93 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56836677G>T , CM000678.2:g.56836677G>T GRCh38
NC_000016.9:g.56870589G>T , CM000678.1:g.56870589G>T GRCh37
NC_000016.8:g.55428090G>T NCBI36
NG_052904.1:g.111573G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308159.10:c.1859G>T MANE Select ENSP00000310668.5:p.Gly620Val
ENST00000308159.9:c.1859G>T ENSP00000310668.5:p.Gly620Val
ENST00000542526.5:c.1490G>T ENSP00000440235.1:p.Gly497Val
ENST00000563405.1:c.53G>T ENSP00000458078.1:p.Gly18Val
ENST00000564887.5:c.1490G>T ENSP00000458039.1:p.Gly497Val
ENST00000569842.5:c.1859G>T ENSP00000458101.1:p.Gly620Val
NM_001242795.1:c.1490G>T NP_001229724.1:p.Gly497Val
NM_001242796.1:c.1490G>T NP_001229725.1:p.Gly497Val
NM_014669.4:c.1859G>T NP_055484.3:p.Gly620Val
XM_005256263.2:c.1859G>T XP_005256320.1:p.Gly620Val
NM_001242796.2:c.1490G>T NP_001229725.1:p.Gly497Val
XM_005256263.3:c.1859G>T XP_005256320.1:p.Gly620Val
NM_014669.5:c.1859G>T MANE Select NP_055484.3:p.Gly620Val
NM_001242795.2:c.1490G>T NP_001229724.1:p.Gly497Val