Canonical Allele Identifier: CA338748293

Gene: UBR4

Linked Data

• gnomAD v4: 1-19078046-T-G
• MyVariant Identifiers: chr1:g.19404540T>G (hg19) ; chr1:g.19078046T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19078046T>G , CM000663.2:g.19078046T>G	GRCh38
NC_000001.10:g.19404540T>G , CM000663.1:g.19404540T>G	GRCh37
NC_000001.9:g.19277127T>G	NCBI36
NG_027669.1:g.137207A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375254.8:c.15254A>C MANE Select	ENSP00000364403.3:p.Lys5085Thr
ENST00000375224.1:c.2375A>C	ENSP00000364372.1:p.Lys792Thr
ENST00000375225.7:c.479A>C	ENSP00000364373.3:p.Lys160Thr
ENST00000375254.7:c.15254A>C	ENSP00000364403.3:p.Lys5085Thr
ENST00000459947.5:n.3261A>C
NM_020765.2:c.15254A>C	NP_065816.2:p.Lys5085Thr
XM_011541108.1:c.15407A>C	XP_011539410.1:p.Lys5136Thr
XM_011541109.1:c.15404A>C	XP_011539411.1:p.Lys5135Thr
XM_011541110.1:c.15404A>C	XP_011539412.1:p.Lys5135Thr
XM_011541111.1:c.15404A>C	XP_011539413.1:p.Lys5135Thr
XM_011541112.1:c.15392A>C	XP_011539414.1:p.Lys5131Thr
XM_011541113.1:c.15389A>C	XP_011539415.1:p.Lys5130Thr
XM_011541114.1:c.15389A>C	XP_011539416.1:p.Lys5130Thr
XM_011541115.1:c.15383A>C	XP_011539417.1:p.Lys5128Thr
XM_011541116.1:c.15374A>C	XP_011539418.1:p.Lys5125Thr
XM_011541117.1:c.15323A>C	XP_011539419.1:p.Lys5108Thr
XM_011541118.1:c.15320A>C	XP_011539420.1:p.Lys5107Thr
XM_011541119.1:c.15287A>C	XP_011539421.1:p.Lys5096Thr
XM_011541120.1:c.15284A>C	XP_011539422.1:p.Lys5095Thr
XM_011541121.1:c.15251A>C	XP_011539423.1:p.Lys5084Thr
XM_011541108.3:c.15521A>C	XP_011539410.2:p.Lys5174Thr
XM_011541109.3:c.15518A>C	XP_011539411.2:p.Lys5173Thr
XM_011541110.3:c.15518A>C	XP_011539412.2:p.Lys5173Thr
XM_011541111.3:c.15518A>C	XP_011539413.2:p.Lys5173Thr
XM_011541112.3:c.15506A>C	XP_011539414.2:p.Lys5169Thr
XM_011541113.3:c.15503A>C	XP_011539415.2:p.Lys5168Thr
XM_011541114.3:c.15503A>C	XP_011539416.2:p.Lys5168Thr
XM_011541115.3:c.15497A>C	XP_011539417.2:p.Lys5166Thr
XM_011541116.3:c.15488A>C	XP_011539418.2:p.Lys5163Thr
XM_011541117.3:c.15437A>C	XP_011539419.2:p.Lys5146Thr
XM_011541118.3:c.15434A>C	XP_011539420.2:p.Lys5145Thr
XM_011541119.3:c.15401A>C	XP_011539421.2:p.Lys5134Thr
XM_011541120.3:c.15398A>C	XP_011539422.2:p.Lys5133Thr
XM_011541121.3:c.15365A>C	XP_011539423.2:p.Lys5122Thr
XM_017000822.2:c.15500A>C	XP_016856311.2:p.Lys5167Thr
XM_017000823.2:c.15473A>C	XP_016856312.2:p.Lys5158Thr
XM_017000824.2:c.15419A>C	XP_016856313.2:p.Lys5140Thr
XM_017000825.2:c.15404A>C	XP_016856314.2:p.Lys5135Thr
XM_017000826.2:c.15401A>C	XP_016856315.2:p.Lys5134Thr
XM_017000827.2:c.15386A>C	XP_016856316.2:p.Lys5129Thr
XM_017000828.2:c.15362A>C	XP_016856317.2:p.Lys5121Thr
XM_017000829.2:c.15314A>C	XP_016856318.2:p.Lys5105Thr
XM_017000830.2:c.15263A>C	XP_016856319.2:p.Lys5088Thr
NM_020765.3:c.15254A>C MANE Select	NP_065816.2:p.Lys5085Thr