Canonical Allele Identifier: CA414184687

Gene: UPF3B

Linked Data

• MyVariant Identifiers: chrX:g.118977157T>C (hg19) ; chrX:g.119843194T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.119843194T>C , CM000685.2:g.119843194T>C	GRCh38
NC_000023.10:g.118977157T>C , CM000685.1:g.118977157T>C	GRCh37
NC_000023.9:g.118861185T>C	NCBI36
NG_009241.1:g.14812A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276201.7:c.577A>G MANE Select	ENSP00000276201.3:p.Ile193Val
ENST00000276201.6:c.577A>G	ENSP00000276201.2:p.Ile193Val
ENST00000345865.6:c.577A>G	ENSP00000245418.2:p.Ile193Val
ENST00000478840.1:n.165A>G
ENST00000619445.1:c.577A>G	ENSP00000481698.1:p.Ile193Val
NM_023010.3:c.577A>G	NP_075386.1:p.Ile193Val
NM_080632.2:c.577A>G	NP_542199.1:p.Ile193Val
XM_005262458.3:c.577A>G	XP_005262515.1:p.Ile193Val
XM_006724780.2:c.577A>G	XP_006724843.1:p.Ile193Val
XM_006724781.2:c.577A>G	XP_006724844.1:p.Ile193Val
XM_011531378.1:c.577A>G	XP_011529680.1:p.Ile193Val
XM_011531379.1:c.577A>G	XP_011529681.1:p.Ile193Val
XM_017029737.1:c.577A>G	XP_016885226.1:p.Ile193Val
XM_017029738.1:c.577A>G	XP_016885227.1:p.Ile193Val
XM_017029739.1:c.577A>G	XP_016885228.1:p.Ile193Val
XM_017029740.1:c.577A>G	XP_016885229.1:p.Ile193Val
NM_080632.3:c.577A>G MANE Select	NP_542199.1:p.Ile193Val
NM_023010.4:c.577A>G	NP_075386.1:p.Ile193Val