Canonical Allele Identifier: CA395993332
Gene: NUP93 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56836701T>C , CM000678.2:g.56836701T>C GRCh38
NC_000016.9:g.56870613T>C , CM000678.1:g.56870613T>C GRCh37
NC_000016.8:g.55428114T>C NCBI36
NG_052904.1:g.111597T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308159.10:c.1883T>C MANE Select ENSP00000310668.5:p.Leu628Pro
ENST00000308159.9:c.1883T>C ENSP00000310668.5:p.Leu628Pro
ENST00000542526.5:c.1514T>C ENSP00000440235.1:p.Leu505Pro
ENST00000563405.1:c.77T>C ENSP00000458078.1:p.Leu26Pro
ENST00000564887.5:c.1514T>C ENSP00000458039.1:p.Leu505Pro
ENST00000569842.5:c.1883T>C ENSP00000458101.1:p.Leu628Pro
NM_001242795.1:c.1514T>C NP_001229724.1:p.Leu505Pro
NM_001242796.1:c.1514T>C NP_001229725.1:p.Leu505Pro
NM_014669.4:c.1883T>C NP_055484.3:p.Leu628Pro
XM_005256263.2:c.1883T>C XP_005256320.1:p.Leu628Pro
NM_001242796.2:c.1514T>C NP_001229725.1:p.Leu505Pro
XM_005256263.3:c.1883T>C XP_005256320.1:p.Leu628Pro
NM_014669.5:c.1883T>C MANE Select NP_055484.3:p.Leu628Pro
NM_001242795.2:c.1514T>C NP_001229724.1:p.Leu505Pro