Canonical Allele Identifier: CA518216425

Gene: UPF3B

Linked Data

• dbSNP Id: rs751784464
• gnomAD v2: X-118977260-T-A
• gnomAD v4: X-119843297-T-A
• MyVariant Identifiers: chrX:g.118977260T>A (hg19) ; chrX:g.119843297T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.119843297T>A , CM000685.2:g.119843297T>A	GRCh38
NC_000023.10:g.118977260T>A , CM000685.1:g.118977260T>A	GRCh37
NC_000023.9:g.118861288T>A	NCBI36
NG_009241.1:g.14709A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276201.7:c.474A>T MANE Select	ENSP00000276201.3:p.Pro158=
ENST00000276201.6:c.474A>T	ENSP00000276201.2:p.Pro158=
ENST00000345865.6:c.474A>T	ENSP00000245418.2:p.Pro158=
ENST00000478840.1:n.62A>T
ENST00000619445.1:c.474A>T	ENSP00000481698.1:p.Pro158=
NM_023010.3:c.474A>T	NP_075386.1:p.Pro158=
NM_080632.2:c.474A>T	NP_542199.1:p.Pro158=
XM_005262458.3:c.474A>T	XP_005262515.1:p.Pro158=
XM_006724780.2:c.474A>T	XP_006724843.1:p.Pro158=
XM_006724781.2:c.474A>T	XP_006724844.1:p.Pro158=
XM_011531378.1:c.474A>T	XP_011529680.1:p.Pro158=
XM_011531379.1:c.474A>T	XP_011529681.1:p.Pro158=
XM_017029737.1:c.474A>T	XP_016885226.1:p.Pro158=
XM_017029738.1:c.474A>T	XP_016885227.1:p.Pro158=
XM_017029739.1:c.474A>T	XP_016885228.1:p.Pro158=
XM_017029740.1:c.474A>T	XP_016885229.1:p.Pro158=
NM_080632.3:c.474A>T MANE Select	NP_542199.1:p.Pro158=
NM_023010.4:c.474A>T	NP_075386.1:p.Pro158=