Canonical Allele Identifier: CA338748142

Gene: UBR4

Linked Data

• gnomAD v4: 1-19078005-G-A
• MyVariant Identifiers: chr1:g.19404499G>A (hg19) ; chr1:g.19078005G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19078005G>A , CM000663.2:g.19078005G>A	GRCh38
NC_000001.10:g.19404499G>A , CM000663.1:g.19404499G>A	GRCh37
NC_000001.9:g.19277086G>A	NCBI36
NG_027669.1:g.137248C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375254.8:c.15295C>T MANE Select	ENSP00000364403.3:p.Leu5099Phe
ENST00000375224.1:c.2416C>T	ENSP00000364372.1:p.Leu806Phe
ENST00000375225.7:c.520C>T	ENSP00000364373.3:p.Leu174Phe
ENST00000375254.7:c.15295C>T	ENSP00000364403.3:p.Leu5099Phe
ENST00000459947.5:n.3302C>T
NM_020765.2:c.15295C>T	NP_065816.2:p.Leu5099Phe
XM_011541108.1:c.15448C>T	XP_011539410.1:p.Leu5150Phe
XM_011541109.1:c.15445C>T	XP_011539411.1:p.Leu5149Phe
XM_011541110.1:c.15445C>T	XP_011539412.1:p.Leu5149Phe
XM_011541111.1:c.15445C>T	XP_011539413.1:p.Leu5149Phe
XM_011541112.1:c.15433C>T	XP_011539414.1:p.Leu5145Phe
XM_011541113.1:c.15430C>T	XP_011539415.1:p.Leu5144Phe
XM_011541114.1:c.15430C>T	XP_011539416.1:p.Leu5144Phe
XM_011541115.1:c.15424C>T	XP_011539417.1:p.Leu5142Phe
XM_011541116.1:c.15415C>T	XP_011539418.1:p.Leu5139Phe
XM_011541117.1:c.15364C>T	XP_011539419.1:p.Leu5122Phe
XM_011541118.1:c.15361C>T	XP_011539420.1:p.Leu5121Phe
XM_011541119.1:c.15328C>T	XP_011539421.1:p.Leu5110Phe
XM_011541120.1:c.15325C>T	XP_011539422.1:p.Leu5109Phe
XM_011541121.1:c.15292C>T	XP_011539423.1:p.Leu5098Phe
XM_011541108.3:c.15562C>T	XP_011539410.2:p.Leu5188Phe
XM_011541109.3:c.15559C>T	XP_011539411.2:p.Leu5187Phe
XM_011541110.3:c.15559C>T	XP_011539412.2:p.Leu5187Phe
XM_011541111.3:c.15559C>T	XP_011539413.2:p.Leu5187Phe
XM_011541112.3:c.15547C>T	XP_011539414.2:p.Leu5183Phe
XM_011541113.3:c.15544C>T	XP_011539415.2:p.Leu5182Phe
XM_011541114.3:c.15544C>T	XP_011539416.2:p.Leu5182Phe
XM_011541115.3:c.15538C>T	XP_011539417.2:p.Leu5180Phe
XM_011541116.3:c.15529C>T	XP_011539418.2:p.Leu5177Phe
XM_011541117.3:c.15478C>T	XP_011539419.2:p.Leu5160Phe
XM_011541118.3:c.15475C>T	XP_011539420.2:p.Leu5159Phe
XM_011541119.3:c.15442C>T	XP_011539421.2:p.Leu5148Phe
XM_011541120.3:c.15439C>T	XP_011539422.2:p.Leu5147Phe
XM_011541121.3:c.15406C>T	XP_011539423.2:p.Leu5136Phe
XM_017000822.2:c.15541C>T	XP_016856311.2:p.Leu5181Phe
XM_017000823.2:c.15514C>T	XP_016856312.2:p.Leu5172Phe
XM_017000824.2:c.15460C>T	XP_016856313.2:p.Leu5154Phe
XM_017000825.2:c.15445C>T	XP_016856314.2:p.Leu5149Phe
XM_017000826.2:c.15442C>T	XP_016856315.2:p.Leu5148Phe
XM_017000827.2:c.15427C>T	XP_016856316.2:p.Leu5143Phe
XM_017000828.2:c.15403C>T	XP_016856317.2:p.Leu5135Phe
XM_017000829.2:c.15355C>T	XP_016856318.2:p.Leu5119Phe
XM_017000830.2:c.15304C>T	XP_016856319.2:p.Leu5102Phe
NM_020765.3:c.15295C>T MANE Select	NP_065816.2:p.Leu5099Phe