Canonical Allele Identifier: CA338748192

Gene: UBR4

Linked Data

• dbSNP Id: rs1303160102
• gnomAD v2: 1-19404516-G-A
• gnomAD v3: 1-19078022-G-A
• gnomAD v4: 1-19078022-G-A
• COSMIC: COSM3863932 ; COSM3863933 ; COSM3863934
• MyVariant Identifiers: chr1:g.19404516G>A (hg19) ; chr1:g.19078022G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19078022G>A , CM000663.2:g.19078022G>A	GRCh38
NC_000001.10:g.19404516G>A , CM000663.1:g.19404516G>A	GRCh37
NC_000001.9:g.19277103G>A	NCBI36
NG_027669.1:g.137231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375254.8:c.15278C>T MANE Select	ENSP00000364403.3:p.Ser5093Phe
ENST00000375224.1:c.2399C>T	ENSP00000364372.1:p.Ser800Phe
ENST00000375225.7:c.503C>T	ENSP00000364373.3:p.Ser168Phe
ENST00000375254.7:c.15278C>T	ENSP00000364403.3:p.Ser5093Phe
ENST00000459947.5:n.3285C>T
NM_020765.2:c.15278C>T	NP_065816.2:p.Ser5093Phe
XM_011541108.1:c.15431C>T	XP_011539410.1:p.Ser5144Phe
XM_011541109.1:c.15428C>T	XP_011539411.1:p.Ser5143Phe
XM_011541110.1:c.15428C>T	XP_011539412.1:p.Ser5143Phe
XM_011541111.1:c.15428C>T	XP_011539413.1:p.Ser5143Phe
XM_011541112.1:c.15416C>T	XP_011539414.1:p.Ser5139Phe
XM_011541113.1:c.15413C>T	XP_011539415.1:p.Ser5138Phe
XM_011541114.1:c.15413C>T	XP_011539416.1:p.Ser5138Phe
XM_011541115.1:c.15407C>T	XP_011539417.1:p.Ser5136Phe
XM_011541116.1:c.15398C>T	XP_011539418.1:p.Ser5133Phe
XM_011541117.1:c.15347C>T	XP_011539419.1:p.Ser5116Phe
XM_011541118.1:c.15344C>T	XP_011539420.1:p.Ser5115Phe
XM_011541119.1:c.15311C>T	XP_011539421.1:p.Ser5104Phe
XM_011541120.1:c.15308C>T	XP_011539422.1:p.Ser5103Phe
XM_011541121.1:c.15275C>T	XP_011539423.1:p.Ser5092Phe
XM_011541108.3:c.15545C>T	XP_011539410.2:p.Ser5182Phe
XM_011541109.3:c.15542C>T	XP_011539411.2:p.Ser5181Phe
XM_011541110.3:c.15542C>T	XP_011539412.2:p.Ser5181Phe
XM_011541111.3:c.15542C>T	XP_011539413.2:p.Ser5181Phe
XM_011541112.3:c.15530C>T	XP_011539414.2:p.Ser5177Phe
XM_011541113.3:c.15527C>T	XP_011539415.2:p.Ser5176Phe
XM_011541114.3:c.15527C>T	XP_011539416.2:p.Ser5176Phe
XM_011541115.3:c.15521C>T	XP_011539417.2:p.Ser5174Phe
XM_011541116.3:c.15512C>T	XP_011539418.2:p.Ser5171Phe
XM_011541117.3:c.15461C>T	XP_011539419.2:p.Ser5154Phe
XM_011541118.3:c.15458C>T	XP_011539420.2:p.Ser5153Phe
XM_011541119.3:c.15425C>T	XP_011539421.2:p.Ser5142Phe
XM_011541120.3:c.15422C>T	XP_011539422.2:p.Ser5141Phe
XM_011541121.3:c.15389C>T	XP_011539423.2:p.Ser5130Phe
XM_017000822.2:c.15524C>T	XP_016856311.2:p.Ser5175Phe
XM_017000823.2:c.15497C>T	XP_016856312.2:p.Ser5166Phe
XM_017000824.2:c.15443C>T	XP_016856313.2:p.Ser5148Phe
XM_017000825.2:c.15428C>T	XP_016856314.2:p.Ser5143Phe
XM_017000826.2:c.15425C>T	XP_016856315.2:p.Ser5142Phe
XM_017000827.2:c.15410C>T	XP_016856316.2:p.Ser5137Phe
XM_017000828.2:c.15386C>T	XP_016856317.2:p.Ser5129Phe
XM_017000829.2:c.15338C>T	XP_016856318.2:p.Ser5113Phe
XM_017000830.2:c.15287C>T	XP_016856319.2:p.Ser5096Phe
NM_020765.3:c.15278C>T MANE Select	NP_065816.2:p.Ser5093Phe