Canonical Allele Identifier: CA414184458

Gene: UPF3B

Linked Data

• dbSNP Id: rs2147787350
• gnomAD v4: X-119841221-C-T
• MyVariant Identifiers: chrX:g.118975184C>T (hg19) ; chrX:g.119841221C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276201.7:c.662G>A MANE Select	ENSP00000276201.3:p.Arg221Lys
ENST00000276201.6:c.662G>A	ENSP00000276201.2:p.Arg221Lys
ENST00000345865.6:c.662G>A	ENSP00000245418.2:p.Arg221Lys
ENST00000478840.1:n.250G>A
ENST00000619445.1:c.624+514G>A	ENSP00000481698.1:n.624+514G>A
NM_023010.3:c.662G>A	NP_075386.1:p.Arg221Lys
NM_080632.2:c.662G>A	NP_542199.1:p.Arg221Lys
XM_005262458.3:c.662G>A	XP_005262515.1:p.Arg221Lys
XM_006724780.2:c.662G>A	XP_006724843.1:p.Arg221Lys
XM_006724781.2:c.662G>A	XP_006724844.1:p.Arg221Lys
XM_011531378.1:c.662G>A	XP_011529680.1:p.Arg221Lys
XM_011531379.1:c.662G>A	XP_011529681.1:p.Arg221Lys
XM_017029737.1:c.662G>A	XP_016885226.1:p.Arg221Lys
XM_017029738.1:c.662G>A	XP_016885227.1:p.Arg221Lys
XM_017029739.1:c.662G>A	XP_016885228.1:p.Arg221Lys
XM_017029740.1:c.662G>A	XP_016885229.1:p.Arg221Lys
NM_080632.3:c.662G>A MANE Select	NP_542199.1:p.Arg221Lys
NM_023010.4:c.662G>A	NP_075386.1:p.Arg221Lys