Canonical Allele Identifier: CA338748137

Gene: UBR4

Linked Data

• dbSNP Id: rs769843379
• gnomAD v2: 1-19404496-C-A
• gnomAD v4: 1-19078002-C-A
• MyVariant Identifiers: chr1:g.19404496C>A (hg19) ; chr1:g.19078002C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19078002C>A , CM000663.2:g.19078002C>A	GRCh38
NC_000001.10:g.19404496C>A , CM000663.1:g.19404496C>A	GRCh37
NC_000001.9:g.19277083C>A	NCBI36
NG_027669.1:g.137251G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375254.8:c.15298G>T MANE Select	ENSP00000364403.3:p.Val5100Phe
ENST00000375224.1:c.2419G>T	ENSP00000364372.1:p.Val807Phe
ENST00000375225.7:c.523G>T	ENSP00000364373.3:p.Val175Phe
ENST00000375254.7:c.15298G>T	ENSP00000364403.3:p.Val5100Phe
ENST00000459947.5:n.3305G>T
NM_020765.2:c.15298G>T	NP_065816.2:p.Val5100Phe
XM_011541108.1:c.15451G>T	XP_011539410.1:p.Val5151Phe
XM_011541109.1:c.15448G>T	XP_011539411.1:p.Val5150Phe
XM_011541110.1:c.15448G>T	XP_011539412.1:p.Val5150Phe
XM_011541111.1:c.15448G>T	XP_011539413.1:p.Val5150Phe
XM_011541112.1:c.15436G>T	XP_011539414.1:p.Val5146Phe
XM_011541113.1:c.15433G>T	XP_011539415.1:p.Val5145Phe
XM_011541114.1:c.15433G>T	XP_011539416.1:p.Val5145Phe
XM_011541115.1:c.15427G>T	XP_011539417.1:p.Val5143Phe
XM_011541116.1:c.15418G>T	XP_011539418.1:p.Val5140Phe
XM_011541117.1:c.15367G>T	XP_011539419.1:p.Val5123Phe
XM_011541118.1:c.15364G>T	XP_011539420.1:p.Val5122Phe
XM_011541119.1:c.15331G>T	XP_011539421.1:p.Val5111Phe
XM_011541120.1:c.15328G>T	XP_011539422.1:p.Val5110Phe
XM_011541121.1:c.15295G>T	XP_011539423.1:p.Val5099Phe
XM_011541108.3:c.15565G>T	XP_011539410.2:p.Val5189Phe
XM_011541109.3:c.15562G>T	XP_011539411.2:p.Val5188Phe
XM_011541110.3:c.15562G>T	XP_011539412.2:p.Val5188Phe
XM_011541111.3:c.15562G>T	XP_011539413.2:p.Val5188Phe
XM_011541112.3:c.15550G>T	XP_011539414.2:p.Val5184Phe
XM_011541113.3:c.15547G>T	XP_011539415.2:p.Val5183Phe
XM_011541114.3:c.15547G>T	XP_011539416.2:p.Val5183Phe
XM_011541115.3:c.15541G>T	XP_011539417.2:p.Val5181Phe
XM_011541116.3:c.15532G>T	XP_011539418.2:p.Val5178Phe
XM_011541117.3:c.15481G>T	XP_011539419.2:p.Val5161Phe
XM_011541118.3:c.15478G>T	XP_011539420.2:p.Val5160Phe
XM_011541119.3:c.15445G>T	XP_011539421.2:p.Val5149Phe
XM_011541120.3:c.15442G>T	XP_011539422.2:p.Val5148Phe
XM_011541121.3:c.15409G>T	XP_011539423.2:p.Val5137Phe
XM_017000822.2:c.15544G>T	XP_016856311.2:p.Val5182Phe
XM_017000823.2:c.15517G>T	XP_016856312.2:p.Val5173Phe
XM_017000824.2:c.15463G>T	XP_016856313.2:p.Val5155Phe
XM_017000825.2:c.15448G>T	XP_016856314.2:p.Val5150Phe
XM_017000826.2:c.15445G>T	XP_016856315.2:p.Val5149Phe
XM_017000827.2:c.15430G>T	XP_016856316.2:p.Val5144Phe
XM_017000828.2:c.15406G>T	XP_016856317.2:p.Val5136Phe
XM_017000829.2:c.15358G>T	XP_016856318.2:p.Val5120Phe
XM_017000830.2:c.15307G>T	XP_016856319.2:p.Val5103Phe
NM_020765.3:c.15298G>T MANE Select	NP_065816.2:p.Val5100Phe