Canonical Allele Identifier: CA3647361
Gene: NUP153 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.17632830C>T , CM000668.2:g.17632830C>T GRCh38
NC_000006.11:g.17633061C>T , CM000668.1:g.17633061C>T GRCh37
NC_000006.10:g.17741040C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262077.3:c.2479G>A MANE Select ENSP00000262077.3:p.Ala827Thr
ENST00000262077.2:c.2479G>A ENSP00000262077.2:p.Ala827Thr
ENST00000537253.5:c.2572G>A ENSP00000444029.1:p.Ala858Thr
ENST00000613258.4:c.2353G>A ENSP00000478627.1:p.Ala785Thr
NM_001278209.1:c.2572G>A NP_001265138.1:p.Ala858Thr
NM_001278210.1:c.2353G>A NP_001265139.1:p.Ala785Thr
NM_005124.3:c.2479G>A NP_005115.2:p.Ala827Thr
XM_005249507.1:c.2425G>A XP_005249564.1:p.Ala809Thr
XM_006715290.1:c.2461G>A XP_006715353.1:p.Ala821Thr
XM_006715291.2:c.*26G>A XP_006715354.1:n.*26G>A
XM_011515028.1:c.2465-3291G>A XP_011513330.1:n.2465-3291G>A
XM_005249507.3:c.2425G>A XP_005249564.1:p.Ala809Thr
XM_006715290.3:c.2461G>A XP_006715353.1:p.Ala821Thr
XM_006715291.4:c.*26G>A XP_006715354.1:n.*26G>A
XM_011515028.3:c.2465-3291G>A XP_011513330.1:n.2465-3291G>A
XM_017011594.2:c.2407G>A XP_016867083.1:p.Ala803Thr
NM_005124.4:c.2479G>A MANE Select NP_005115.2:p.Ala827Thr
NM_001278209.2:c.2572G>A NP_001265138.1:p.Ala858Thr
NM_001278210.2:c.2353G>A NP_001265139.1:p.Ala785Thr