Canonical Allele Identifier: CA647918

Gene: UBR4

Linked Data

• dbSNP Id: rs139767143
• ExAC: 1:19404514 G / A
• gnomAD v2: 1-19404514-G-A
• gnomAD v3: 1-19078020-G-A
• gnomAD v4: 1-19078020-G-A
• MyVariant Identifiers: chr1:g.19404514G>A (hg19) ; chr1:g.19078020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19078020G>A , CM000663.2:g.19078020G>A	GRCh38
NC_000001.10:g.19404514G>A , CM000663.1:g.19404514G>A	GRCh37
NC_000001.9:g.19277101G>A	NCBI36
NG_027669.1:g.137233C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375254.8:c.15280C>T MANE Select	ENSP00000364403.3:p.Leu5094Phe
ENST00000375224.1:c.2401C>T	ENSP00000364372.1:p.Leu801Phe
ENST00000375225.7:c.505C>T	ENSP00000364373.3:p.Leu169Phe
ENST00000375254.7:c.15280C>T	ENSP00000364403.3:p.Leu5094Phe
ENST00000459947.5:n.3287C>T
NM_020765.2:c.15280C>T	NP_065816.2:p.Leu5094Phe
XM_011541108.1:c.15433C>T	XP_011539410.1:p.Leu5145Phe
XM_011541109.1:c.15430C>T	XP_011539411.1:p.Leu5144Phe
XM_011541110.1:c.15430C>T	XP_011539412.1:p.Leu5144Phe
XM_011541111.1:c.15430C>T	XP_011539413.1:p.Leu5144Phe
XM_011541112.1:c.15418C>T	XP_011539414.1:p.Leu5140Phe
XM_011541113.1:c.15415C>T	XP_011539415.1:p.Leu5139Phe
XM_011541114.1:c.15415C>T	XP_011539416.1:p.Leu5139Phe
XM_011541115.1:c.15409C>T	XP_011539417.1:p.Leu5137Phe
XM_011541116.1:c.15400C>T	XP_011539418.1:p.Leu5134Phe
XM_011541117.1:c.15349C>T	XP_011539419.1:p.Leu5117Phe
XM_011541118.1:c.15346C>T	XP_011539420.1:p.Leu5116Phe
XM_011541119.1:c.15313C>T	XP_011539421.1:p.Leu5105Phe
XM_011541120.1:c.15310C>T	XP_011539422.1:p.Leu5104Phe
XM_011541121.1:c.15277C>T	XP_011539423.1:p.Leu5093Phe
XM_011541108.3:c.15547C>T	XP_011539410.2:p.Leu5183Phe
XM_011541109.3:c.15544C>T	XP_011539411.2:p.Leu5182Phe
XM_011541110.3:c.15544C>T	XP_011539412.2:p.Leu5182Phe
XM_011541111.3:c.15544C>T	XP_011539413.2:p.Leu5182Phe
XM_011541112.3:c.15532C>T	XP_011539414.2:p.Leu5178Phe
XM_011541113.3:c.15529C>T	XP_011539415.2:p.Leu5177Phe
XM_011541114.3:c.15529C>T	XP_011539416.2:p.Leu5177Phe
XM_011541115.3:c.15523C>T	XP_011539417.2:p.Leu5175Phe
XM_011541116.3:c.15514C>T	XP_011539418.2:p.Leu5172Phe
XM_011541117.3:c.15463C>T	XP_011539419.2:p.Leu5155Phe
XM_011541118.3:c.15460C>T	XP_011539420.2:p.Leu5154Phe
XM_011541119.3:c.15427C>T	XP_011539421.2:p.Leu5143Phe
XM_011541120.3:c.15424C>T	XP_011539422.2:p.Leu5142Phe
XM_011541121.3:c.15391C>T	XP_011539423.2:p.Leu5131Phe
XM_017000822.2:c.15526C>T	XP_016856311.2:p.Leu5176Phe
XM_017000823.2:c.15499C>T	XP_016856312.2:p.Leu5167Phe
XM_017000824.2:c.15445C>T	XP_016856313.2:p.Leu5149Phe
XM_017000825.2:c.15430C>T	XP_016856314.2:p.Leu5144Phe
XM_017000826.2:c.15427C>T	XP_016856315.2:p.Leu5143Phe
XM_017000827.2:c.15412C>T	XP_016856316.2:p.Leu5138Phe
XM_017000828.2:c.15388C>T	XP_016856317.2:p.Leu5130Phe
XM_017000829.2:c.15340C>T	XP_016856318.2:p.Leu5114Phe
XM_017000830.2:c.15289C>T	XP_016856319.2:p.Leu5097Phe
NM_020765.3:c.15280C>T MANE Select	NP_065816.2:p.Leu5094Phe