Canonical Allele Identifier: CA414184457
Gene: UPF3B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.119841221C>A , CM000685.2:g.119841221C>A GRCh38
NC_000023.10:g.118975184C>A , CM000685.1:g.118975184C>A GRCh37
NC_000023.9:g.118859212C>A NCBI36
NG_009241.1:g.16785G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276201.7:c.662G>T MANE Select ENSP00000276201.3:p.Arg221Ile
ENST00000276201.6:c.662G>T ENSP00000276201.2:p.Arg221Ile
ENST00000345865.6:c.662G>T ENSP00000245418.2:p.Arg221Ile
ENST00000478840.1:n.250G>T
ENST00000619445.1:c.624+514G>T ENSP00000481698.1:n.624+514G>T
NM_023010.3:c.662G>T NP_075386.1:p.Arg221Ile
NM_080632.2:c.662G>T NP_542199.1:p.Arg221Ile
XM_005262458.3:c.662G>T XP_005262515.1:p.Arg221Ile
XM_006724780.2:c.662G>T XP_006724843.1:p.Arg221Ile
XM_006724781.2:c.662G>T XP_006724844.1:p.Arg221Ile
XM_011531378.1:c.662G>T XP_011529680.1:p.Arg221Ile
XM_011531379.1:c.662G>T XP_011529681.1:p.Arg221Ile
XM_017029737.1:c.662G>T XP_016885226.1:p.Arg221Ile
XM_017029738.1:c.662G>T XP_016885227.1:p.Arg221Ile
XM_017029739.1:c.662G>T XP_016885228.1:p.Arg221Ile
XM_017029740.1:c.662G>T XP_016885229.1:p.Arg221Ile
NM_080632.3:c.662G>T MANE Select NP_542199.1:p.Arg221Ile
NM_023010.4:c.662G>T NP_075386.1:p.Arg221Ile