Canonical Allele Identifier: CA357847
Gene: NUP93 HGNC NCBI

Linked Data

ClinVar Variation Id: 224964
dbSNP Id: rs145473779

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56834768G>T , CM000678.2:g.56834768G>T GRCh38
NC_000016.9:g.56868680G>T , CM000678.1:g.56868680G>T GRCh37
NC_000016.8:g.55426181G>T NCBI36
NG_052904.1:g.109664G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000308159.10:c.1772G>T MANE Select ENSP00000310668.5:p.Gly591Val
ENST00000308159.9:c.1772G>T ENSP00000310668.5:p.Gly591Val
ENST00000542526.5:c.1403G>T ENSP00000440235.1:p.Gly468Val
ENST00000564887.5:c.1403G>T ENSP00000458039.1:p.Gly468Val
ENST00000569842.5:c.1772G>T ENSP00000458101.1:p.Gly591Val
NM_001242795.1:c.1403G>T NP_001229724.1:p.Gly468Val
NM_001242796.1:c.1403G>T NP_001229725.1:p.Gly468Val
NM_014669.4:c.1772G>T NP_055484.3:p.Gly591Val
XM_005256263.2:c.1772G>T XP_005256320.1:p.Gly591Val
NM_001242796.2:c.1403G>T NP_001229725.1:p.Gly468Val
XM_005256263.3:c.1772G>T XP_005256320.1:p.Gly591Val
NM_014669.5:c.1772G>T MANE Select NP_055484.3:p.Gly591Val
NM_001242795.2:c.1403G>T NP_001229724.1:p.Gly468Val