Canonical Allele Identifier: CA18791074

Gene: UBR4

Linked Data

• dbSNP Id: rs145173535
• gnomAD v2: 1-19404538-C-T
• gnomAD v4: 1-19078044-C-T
• MyVariant Identifiers: chr1:g.19404538C>T (hg19) ; chr1:g.19078044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19078044C>T , CM000663.2:g.19078044C>T	GRCh38
NC_000001.10:g.19404538C>T , CM000663.1:g.19404538C>T	GRCh37
NC_000001.9:g.19277125C>T	NCBI36
NG_027669.1:g.137209G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375254.8:c.15256G>A MANE Select	ENSP00000364403.3:p.Asp5086Asn
ENST00000375224.1:c.2377G>A	ENSP00000364372.1:p.Asp793Asn
ENST00000375225.7:c.481G>A	ENSP00000364373.3:p.Asp161Asn
ENST00000375254.7:c.15256G>A	ENSP00000364403.3:p.Asp5086Asn
ENST00000459947.5:n.3263G>A
NM_020765.2:c.15256G>A	NP_065816.2:p.Asp5086Asn
XM_011541108.1:c.15409G>A	XP_011539410.1:p.Asp5137Asn
XM_011541109.1:c.15406G>A	XP_011539411.1:p.Asp5136Asn
XM_011541110.1:c.15406G>A	XP_011539412.1:p.Asp5136Asn
XM_011541111.1:c.15406G>A	XP_011539413.1:p.Asp5136Asn
XM_011541112.1:c.15394G>A	XP_011539414.1:p.Asp5132Asn
XM_011541113.1:c.15391G>A	XP_011539415.1:p.Asp5131Asn
XM_011541114.1:c.15391G>A	XP_011539416.1:p.Asp5131Asn
XM_011541115.1:c.15385G>A	XP_011539417.1:p.Asp5129Asn
XM_011541116.1:c.15376G>A	XP_011539418.1:p.Asp5126Asn
XM_011541117.1:c.15325G>A	XP_011539419.1:p.Asp5109Asn
XM_011541118.1:c.15322G>A	XP_011539420.1:p.Asp5108Asn
XM_011541119.1:c.15289G>A	XP_011539421.1:p.Asp5097Asn
XM_011541120.1:c.15286G>A	XP_011539422.1:p.Asp5096Asn
XM_011541121.1:c.15253G>A	XP_011539423.1:p.Asp5085Asn
XM_011541108.3:c.15523G>A	XP_011539410.2:p.Asp5175Asn
XM_011541109.3:c.15520G>A	XP_011539411.2:p.Asp5174Asn
XM_011541110.3:c.15520G>A	XP_011539412.2:p.Asp5174Asn
XM_011541111.3:c.15520G>A	XP_011539413.2:p.Asp5174Asn
XM_011541112.3:c.15508G>A	XP_011539414.2:p.Asp5170Asn
XM_011541113.3:c.15505G>A	XP_011539415.2:p.Asp5169Asn
XM_011541114.3:c.15505G>A	XP_011539416.2:p.Asp5169Asn
XM_011541115.3:c.15499G>A	XP_011539417.2:p.Asp5167Asn
XM_011541116.3:c.15490G>A	XP_011539418.2:p.Asp5164Asn
XM_011541117.3:c.15439G>A	XP_011539419.2:p.Asp5147Asn
XM_011541118.3:c.15436G>A	XP_011539420.2:p.Asp5146Asn
XM_011541119.3:c.15403G>A	XP_011539421.2:p.Asp5135Asn
XM_011541120.3:c.15400G>A	XP_011539422.2:p.Asp5134Asn
XM_011541121.3:c.15367G>A	XP_011539423.2:p.Asp5123Asn
XM_017000822.2:c.15502G>A	XP_016856311.2:p.Asp5168Asn
XM_017000823.2:c.15475G>A	XP_016856312.2:p.Asp5159Asn
XM_017000824.2:c.15421G>A	XP_016856313.2:p.Asp5141Asn
XM_017000825.2:c.15406G>A	XP_016856314.2:p.Asp5136Asn
XM_017000826.2:c.15403G>A	XP_016856315.2:p.Asp5135Asn
XM_017000827.2:c.15388G>A	XP_016856316.2:p.Asp5130Asn
XM_017000828.2:c.15364G>A	XP_016856317.2:p.Asp5122Asn
XM_017000829.2:c.15316G>A	XP_016856318.2:p.Asp5106Asn
XM_017000830.2:c.15265G>A	XP_016856319.2:p.Asp5089Asn
NM_020765.3:c.15256G>A MANE Select	NP_065816.2:p.Asp5086Asn