Canonical Allele Identifier: CA2224333790
Gene: NUP93 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56836610A= , CM000678.2:g.56836610A= GRCh38
NC_000016.9:g.56870522A= , CM000678.1:g.56870522A= GRCh37
NC_000016.8:g.55428023A= NCBI36
NG_052904.1:g.111506A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000308159.10:c.1792A= MANE Select ENSP00000310668.5:p.Ile598=
ENST00000308159.9:c.1792A= ENSP00000310668.5:p.Ile598=
ENST00000542526.5:c.1423A= ENSP00000440235.1:p.Ile475=
ENST00000564887.5:c.1423A= ENSP00000458039.1:p.Ile475=
ENST00000569842.5:c.1792A= ENSP00000458101.1:p.Ile598=
NM_001242795.1:c.1423A= NP_001229724.1:p.Ile475=
NM_001242796.1:c.1423A= NP_001229725.1:p.Ile475=
NM_014669.4:c.1792A= NP_055484.3:p.Ile598=
XM_005256263.2:c.1792A= XP_005256320.1:p.Ile598=
NM_001242796.2:c.1423A= NP_001229725.1:p.Ile475=
XM_005256263.3:c.1792A= XP_005256320.1:p.Ile598=
NM_014669.5:c.1792A= MANE Select NP_055484.3:p.Ile598=
NM_001242795.2:c.1423A= NP_001229724.1:p.Ile475=