Canonical Allele Identifier: CA647913

Gene: UBR4

Linked Data

• dbSNP Id: rs748265730
• ExAC: 1:19404494 G / A
• gnomAD v2: 1-19404494-G-A
• gnomAD v4: 1-19078000-G-A
• MyVariant Identifiers: chr1:g.19404494G>A (hg19) ; chr1:g.19078000G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19078000G>A , CM000663.2:g.19078000G>A	GRCh38
NC_000001.10:g.19404494G>A , CM000663.1:g.19404494G>A	GRCh37
NC_000001.9:g.19277081G>A	NCBI36
NG_027669.1:g.137253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375254.8:c.15300C>T MANE Select	ENSP00000364403.3:p.Val5100=
ENST00000375224.1:c.2421C>T	ENSP00000364372.1:p.Val807=
ENST00000375225.7:c.525C>T	ENSP00000364373.3:p.Val175=
ENST00000375254.7:c.15300C>T	ENSP00000364403.3:p.Val5100=
ENST00000459947.5:n.3307C>T
NM_020765.2:c.15300C>T	NP_065816.2:p.Val5100=
XM_011541108.1:c.15453C>T	XP_011539410.1:p.Val5151=
XM_011541109.1:c.15450C>T	XP_011539411.1:p.Val5150=
XM_011541110.1:c.15450C>T	XP_011539412.1:p.Val5150=
XM_011541111.1:c.15450C>T	XP_011539413.1:p.Val5150=
XM_011541112.1:c.15438C>T	XP_011539414.1:p.Val5146=
XM_011541113.1:c.15435C>T	XP_011539415.1:p.Val5145=
XM_011541114.1:c.15435C>T	XP_011539416.1:p.Val5145=
XM_011541115.1:c.15429C>T	XP_011539417.1:p.Val5143=
XM_011541116.1:c.15420C>T	XP_011539418.1:p.Val5140=
XM_011541117.1:c.15369C>T	XP_011539419.1:p.Val5123=
XM_011541118.1:c.15366C>T	XP_011539420.1:p.Val5122=
XM_011541119.1:c.15333C>T	XP_011539421.1:p.Val5111=
XM_011541120.1:c.15330C>T	XP_011539422.1:p.Val5110=
XM_011541121.1:c.15297C>T	XP_011539423.1:p.Val5099=
XM_011541108.3:c.15567C>T	XP_011539410.2:p.Val5189=
XM_011541109.3:c.15564C>T	XP_011539411.2:p.Val5188=
XM_011541110.3:c.15564C>T	XP_011539412.2:p.Val5188=
XM_011541111.3:c.15564C>T	XP_011539413.2:p.Val5188=
XM_011541112.3:c.15552C>T	XP_011539414.2:p.Val5184=
XM_011541113.3:c.15549C>T	XP_011539415.2:p.Val5183=
XM_011541114.3:c.15549C>T	XP_011539416.2:p.Val5183=
XM_011541115.3:c.15543C>T	XP_011539417.2:p.Val5181=
XM_011541116.3:c.15534C>T	XP_011539418.2:p.Val5178=
XM_011541117.3:c.15483C>T	XP_011539419.2:p.Val5161=
XM_011541118.3:c.15480C>T	XP_011539420.2:p.Val5160=
XM_011541119.3:c.15447C>T	XP_011539421.2:p.Val5149=
XM_011541120.3:c.15444C>T	XP_011539422.2:p.Val5148=
XM_011541121.3:c.15411C>T	XP_011539423.2:p.Val5137=
XM_017000822.2:c.15546C>T	XP_016856311.2:p.Val5182=
XM_017000823.2:c.15519C>T	XP_016856312.2:p.Val5173=
XM_017000824.2:c.15465C>T	XP_016856313.2:p.Val5155=
XM_017000825.2:c.15450C>T	XP_016856314.2:p.Val5150=
XM_017000826.2:c.15447C>T	XP_016856315.2:p.Val5149=
XM_017000827.2:c.15432C>T	XP_016856316.2:p.Val5144=
XM_017000828.2:c.15408C>T	XP_016856317.2:p.Val5136=
XM_017000829.2:c.15360C>T	XP_016856318.2:p.Val5120=
XM_017000830.2:c.15309C>T	XP_016856319.2:p.Val5103=
NM_020765.3:c.15300C>T MANE Select	NP_065816.2:p.Val5100=