Canonical Allele Identifier: CA647920

Gene: UBR4

Linked Data

• dbSNP Id: rs768044717
• ExAC: 1:19404519 G / A
• gnomAD v2: 1-19404519-G-A
• gnomAD v3: 1-19078025-G-A
• gnomAD v4: 1-19078025-G-A
• COSMIC: COSM5844878 ; COSM5844879 ; COSM5844880 ; COSM5844881 ; COSM5844882
• MyVariant Identifiers: chr1:g.19404519G>A (hg19) ; chr1:g.19078025G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19078025G>A , CM000663.2:g.19078025G>A	GRCh38
NC_000001.10:g.19404519G>A , CM000663.1:g.19404519G>A	GRCh37
NC_000001.9:g.19277106G>A	NCBI36
NG_027669.1:g.137228C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375254.8:c.15275C>T MANE Select	ENSP00000364403.3:p.Ser5092Phe
ENST00000375224.1:c.2396C>T	ENSP00000364372.1:p.Ser799Phe
ENST00000375225.7:c.500C>T	ENSP00000364373.3:p.Ser167Phe
ENST00000375254.7:c.15275C>T	ENSP00000364403.3:p.Ser5092Phe
ENST00000459947.5:n.3282C>T
NM_020765.2:c.15275C>T	NP_065816.2:p.Ser5092Phe
XM_011541108.1:c.15428C>T	XP_011539410.1:p.Ser5143Phe
XM_011541109.1:c.15425C>T	XP_011539411.1:p.Ser5142Phe
XM_011541110.1:c.15425C>T	XP_011539412.1:p.Ser5142Phe
XM_011541111.1:c.15425C>T	XP_011539413.1:p.Ser5142Phe
XM_011541112.1:c.15413C>T	XP_011539414.1:p.Ser5138Phe
XM_011541113.1:c.15410C>T	XP_011539415.1:p.Ser5137Phe
XM_011541114.1:c.15410C>T	XP_011539416.1:p.Ser5137Phe
XM_011541115.1:c.15404C>T	XP_011539417.1:p.Ser5135Phe
XM_011541116.1:c.15395C>T	XP_011539418.1:p.Ser5132Phe
XM_011541117.1:c.15344C>T	XP_011539419.1:p.Ser5115Phe
XM_011541118.1:c.15341C>T	XP_011539420.1:p.Ser5114Phe
XM_011541119.1:c.15308C>T	XP_011539421.1:p.Ser5103Phe
XM_011541120.1:c.15305C>T	XP_011539422.1:p.Ser5102Phe
XM_011541121.1:c.15272C>T	XP_011539423.1:p.Ser5091Phe
XM_011541108.3:c.15542C>T	XP_011539410.2:p.Ser5181Phe
XM_011541109.3:c.15539C>T	XP_011539411.2:p.Ser5180Phe
XM_011541110.3:c.15539C>T	XP_011539412.2:p.Ser5180Phe
XM_011541111.3:c.15539C>T	XP_011539413.2:p.Ser5180Phe
XM_011541112.3:c.15527C>T	XP_011539414.2:p.Ser5176Phe
XM_011541113.3:c.15524C>T	XP_011539415.2:p.Ser5175Phe
XM_011541114.3:c.15524C>T	XP_011539416.2:p.Ser5175Phe
XM_011541115.3:c.15518C>T	XP_011539417.2:p.Ser5173Phe
XM_011541116.3:c.15509C>T	XP_011539418.2:p.Ser5170Phe
XM_011541117.3:c.15458C>T	XP_011539419.2:p.Ser5153Phe
XM_011541118.3:c.15455C>T	XP_011539420.2:p.Ser5152Phe
XM_011541119.3:c.15422C>T	XP_011539421.2:p.Ser5141Phe
XM_011541120.3:c.15419C>T	XP_011539422.2:p.Ser5140Phe
XM_011541121.3:c.15386C>T	XP_011539423.2:p.Ser5129Phe
XM_017000822.2:c.15521C>T	XP_016856311.2:p.Ser5174Phe
XM_017000823.2:c.15494C>T	XP_016856312.2:p.Ser5165Phe
XM_017000824.2:c.15440C>T	XP_016856313.2:p.Ser5147Phe
XM_017000825.2:c.15425C>T	XP_016856314.2:p.Ser5142Phe
XM_017000826.2:c.15422C>T	XP_016856315.2:p.Ser5141Phe
XM_017000827.2:c.15407C>T	XP_016856316.2:p.Ser5136Phe
XM_017000828.2:c.15383C>T	XP_016856317.2:p.Ser5128Phe
XM_017000829.2:c.15335C>T	XP_016856318.2:p.Ser5112Phe
XM_017000830.2:c.15284C>T	XP_016856319.2:p.Ser5095Phe
NM_020765.3:c.15275C>T MANE Select	NP_065816.2:p.Ser5092Phe