Canonical Allele Identifier: CA6677280
Community Standard Title: NM_020401.4(NUP107):c.72G>A (p.Arg24=)
Gene: NUP107 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.68689025G>A , CM000674.2:g.68689025G>A GRCh38
NC_000012.11:g.69082805G>A , CM000674.1:g.69082805G>A GRCh37
NC_000012.10:g.67369072G>A NCBI36
NG_046600.2:g.7075G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020401.4:c.72G>A MANE Select NP_065134.1:p.Arg24=
ENST00000229179.9:c.72G>A MANE Select ENSP00000229179.4:p.Arg24=
NM_001330192.1:c.-44G>A NP_001317121.1:n.-44G>A
NM_001330192.2:c.-44G>A NP_001317121.1:n.-44G>A
NM_020401.2:c.72G>A NP_065134.1:p.Arg24=
NM_020401.3:c.72G>A NP_065134.1:p.Arg24=
ENST00000229179.8:c.72G>A ENSP00000229179.4:p.Arg24=
ENST00000378905.6:c.-382G>A ENSP00000368185.2:n.-382G>A
ENST00000535333.5:n.146G>A
ENST00000535718.5:c.72G>A ENSP00000445567.1:p.Arg24=
ENST00000537598.5:n.138G>A
ENST00000538549.1:c.-229G>A ENSP00000440116.1:n.-229G>A
ENST00000539906.5:c.-44G>A ENSP00000441448.1:n.-44G>A
ENST00000540453.5:n.167G>A
XM_005269037.2:c.72G>A XP_005269094.1:p.Arg24=
XM_005269037.4:c.72G>A XP_005269094.1:p.Arg24=
XM_011538576.1:c.-44G>A XP_011536878.1:n.-44G>A