Canonical Allele Identifier: CA2224295022
Gene: NUP93 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56751478A>T , CM000678.2:g.56751478A>T GRCh38
NC_000016.9:g.56785390A>T , CM000678.1:g.56785390A>T GRCh37
NC_000016.8:g.55342891A>T NCBI36
NG_052904.1:g.26374A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308159.10:c.179+3052A>T MANE Select ENSP00000310668.5:n.179+3052A>T
ENST00000308159.9:c.179+3052A>T ENSP00000310668.5:n.179+3052A>T
ENST00000562496.5:c.179+3052A>T ENSP00000457902.1:n.179+3052A>T
ENST00000563858.5:c.19+3212A>T ENSP00000455230.1:n.19+3212A>T
ENST00000566315.5:c.179+3052A>T ENSP00000456264.1:n.179+3052A>T
ENST00000566678.1:c.78+3052A>T
ENST00000568656.5:c.179+3052A>T ENSP00000454285.1:n.179+3052A>T
ENST00000569842.5:c.179+3052A>T ENSP00000458101.1:n.179+3052A>T
ENST00000569863.5:c.-190-7060A>T ENSP00000454587.1:n.-190-7060A>T
NM_014669.4:c.179+3052A>T NP_055484.3:n.179+3052A>T
XM_005256263.2:c.179+3052A>T XP_005256320.1:n.179+3052A>T
XM_005256263.3:c.179+3052A>T XP_005256320.1:n.179+3052A>T
NM_014669.5:c.179+3052A>T MANE Select NP_055484.3:n.179+3052A>T