Canonical Allele Identifier: CA338748097

Gene: UBR4

Linked Data

• dbSNP Id: rs1251290145
• gnomAD v2: 1-19404484-A-G
• gnomAD v4: 1-19077990-A-G
• MyVariant Identifiers: chr1:g.19404484A>G (hg19) ; chr1:g.19077990A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19077990A>G , CM000663.2:g.19077990A>G	GRCh38
NC_000001.10:g.19404484A>G , CM000663.1:g.19404484A>G	GRCh37
NC_000001.9:g.19277071A>G	NCBI36
NG_027669.1:g.137263T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375254.8:c.15310T>C MANE Select	ENSP00000364403.3:p.Tyr5104His
ENST00000375224.1:c.2431T>C	ENSP00000364372.1:p.Tyr811His
ENST00000375225.7:c.535T>C	ENSP00000364373.3:p.Tyr179His
ENST00000375254.7:c.15310T>C	ENSP00000364403.3:p.Tyr5104His
ENST00000459947.5:n.3317T>C
NM_020765.2:c.15310T>C	NP_065816.2:p.Tyr5104His
XM_011541108.1:c.15463T>C	XP_011539410.1:p.Tyr5155His
XM_011541109.1:c.15460T>C	XP_011539411.1:p.Tyr5154His
XM_011541110.1:c.15460T>C	XP_011539412.1:p.Tyr5154His
XM_011541111.1:c.15460T>C	XP_011539413.1:p.Tyr5154His
XM_011541112.1:c.15448T>C	XP_011539414.1:p.Tyr5150His
XM_011541113.1:c.15445T>C	XP_011539415.1:p.Tyr5149His
XM_011541114.1:c.15445T>C	XP_011539416.1:p.Tyr5149His
XM_011541115.1:c.15439T>C	XP_011539417.1:p.Tyr5147His
XM_011541116.1:c.15430T>C	XP_011539418.1:p.Tyr5144His
XM_011541117.1:c.15379T>C	XP_011539419.1:p.Tyr5127His
XM_011541118.1:c.15376T>C	XP_011539420.1:p.Tyr5126His
XM_011541119.1:c.15343T>C	XP_011539421.1:p.Tyr5115His
XM_011541120.1:c.15340T>C	XP_011539422.1:p.Tyr5114His
XM_011541121.1:c.15307T>C	XP_011539423.1:p.Tyr5103His
XM_011541108.3:c.15577T>C	XP_011539410.2:p.Tyr5193His
XM_011541109.3:c.15574T>C	XP_011539411.2:p.Tyr5192His
XM_011541110.3:c.15574T>C	XP_011539412.2:p.Tyr5192His
XM_011541111.3:c.15574T>C	XP_011539413.2:p.Tyr5192His
XM_011541112.3:c.15562T>C	XP_011539414.2:p.Tyr5188His
XM_011541113.3:c.15559T>C	XP_011539415.2:p.Tyr5187His
XM_011541114.3:c.15559T>C	XP_011539416.2:p.Tyr5187His
XM_011541115.3:c.15553T>C	XP_011539417.2:p.Tyr5185His
XM_011541116.3:c.15544T>C	XP_011539418.2:p.Tyr5182His
XM_011541117.3:c.15493T>C	XP_011539419.2:p.Tyr5165His
XM_011541118.3:c.15490T>C	XP_011539420.2:p.Tyr5164His
XM_011541119.3:c.15457T>C	XP_011539421.2:p.Tyr5153His
XM_011541120.3:c.15454T>C	XP_011539422.2:p.Tyr5152His
XM_011541121.3:c.15421T>C	XP_011539423.2:p.Tyr5141His
XM_017000822.2:c.15556T>C	XP_016856311.2:p.Tyr5186His
XM_017000823.2:c.15529T>C	XP_016856312.2:p.Tyr5177His
XM_017000824.2:c.15475T>C	XP_016856313.2:p.Tyr5159His
XM_017000825.2:c.15460T>C	XP_016856314.2:p.Tyr5154His
XM_017000826.2:c.15457T>C	XP_016856315.2:p.Tyr5153His
XM_017000827.2:c.15442T>C	XP_016856316.2:p.Tyr5148His
XM_017000828.2:c.15418T>C	XP_016856317.2:p.Tyr5140His
XM_017000829.2:c.15370T>C	XP_016856318.2:p.Tyr5124His
XM_017000830.2:c.15319T>C	XP_016856319.2:p.Tyr5107His
NM_020765.3:c.15310T>C MANE Select	NP_065816.2:p.Tyr5104His