Canonical Allele Identifier: CA16621186
Gene: UPF3B HGNC NCBI

Linked Data

ClinVar Variation Id: 420716
ClinVar RCV Id: RCV000478703
dbSNP Id: rs1064794658
MyVariant Identifiers: chrX:g.118971736T>C (hg19) chrX:g.119837773T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.119837773T>C , CM000685.2:g.119837773T>C GRCh38
NC_000023.10:g.118971736T>C , CM000685.1:g.118971736T>C GRCh37
NC_000023.9:g.118855764T>C NCBI36
NG_009241.1:g.20233A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000276201.7:c.1286A>G MANE Select ENSP00000276201.3:p.Asp429Gly
ENST00000636792.1:c.160A>G
ENST00000276201.6:c.1286A>G ENSP00000276201.2:p.Asp429Gly
ENST00000345865.6:c.1247A>G ENSP00000245418.2:p.Asp416Gly
ENST00000619445.1:c.*126A>G ENSP00000481698.1:n.*126A>G
NM_023010.3:c.1247A>G NP_075386.1:p.Asp416Gly
NM_080632.2:c.1286A>G NP_542199.1:p.Asp429Gly
XM_005262458.3:c.1286A>G XP_005262515.1:p.Asp429Gly
XM_006724780.2:c.1247A>G XP_006724843.1:p.Asp416Gly
XM_006724781.2:c.1286A>G XP_006724844.1:p.Asp429Gly
XM_011531378.1:c.1286A>G XP_011529680.1:p.Asp429Gly
XM_011531379.1:c.1286A>G XP_011529681.1:p.Asp429Gly
XM_017029737.1:c.1286A>G XP_016885226.1:p.Asp429Gly
XM_017029738.1:c.1286A>G XP_016885227.1:p.Asp429Gly
XM_017029739.1:c.1247A>G XP_016885228.1:p.Asp416Gly
XM_017029740.1:c.1286A>G XP_016885229.1:p.Asp429Gly
NM_080632.3:c.1286A>G MANE Select NP_542199.1:p.Asp429Gly
NM_023010.4:c.1247A>G NP_075386.1:p.Asp416Gly
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