Canonical Allele Identifier: CA647915
Gene: UBR4 HGNC NCBI

Linked Data

dbSNP Id: rs773318589
gnomAD v2: 1-19404497-G-A
gnomAD v3: 1-19078003-G-A
gnomAD v4: 1-19078003-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.19078003G>A , CM000663.2:g.19078003G>A GRCh38
NC_000001.10:g.19404497G>A , CM000663.1:g.19404497G>A GRCh37
NC_000001.9:g.19277084G>A NCBI36
NG_027669.1:g.137250C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375254.8:c.15297C>T MANE Select ENSP00000364403.3:p.Leu5099=
ENST00000375224.1:c.2418C>T ENSP00000364372.1:p.Leu806=
ENST00000375225.7:c.522C>T ENSP00000364373.3:p.Leu174=
ENST00000375254.7:c.15297C>T ENSP00000364403.3:p.Leu5099=
ENST00000459947.5:n.3304C>T
NM_020765.2:c.15297C>T NP_065816.2:p.Leu5099=
XM_011541108.1:c.15450C>T XP_011539410.1:p.Leu5150=
XM_011541109.1:c.15447C>T XP_011539411.1:p.Leu5149=
XM_011541110.1:c.15447C>T XP_011539412.1:p.Leu5149=
XM_011541111.1:c.15447C>T XP_011539413.1:p.Leu5149=
XM_011541112.1:c.15435C>T XP_011539414.1:p.Leu5145=
XM_011541113.1:c.15432C>T XP_011539415.1:p.Leu5144=
XM_011541114.1:c.15432C>T XP_011539416.1:p.Leu5144=
XM_011541115.1:c.15426C>T XP_011539417.1:p.Leu5142=
XM_011541116.1:c.15417C>T XP_011539418.1:p.Leu5139=
XM_011541117.1:c.15366C>T XP_011539419.1:p.Leu5122=
XM_011541118.1:c.15363C>T XP_011539420.1:p.Leu5121=
XM_011541119.1:c.15330C>T XP_011539421.1:p.Leu5110=
XM_011541120.1:c.15327C>T XP_011539422.1:p.Leu5109=
XM_011541121.1:c.15294C>T XP_011539423.1:p.Leu5098=
XM_011541108.3:c.15564C>T XP_011539410.2:p.Leu5188=
XM_011541109.3:c.15561C>T XP_011539411.2:p.Leu5187=
XM_011541110.3:c.15561C>T XP_011539412.2:p.Leu5187=
XM_011541111.3:c.15561C>T XP_011539413.2:p.Leu5187=
XM_011541112.3:c.15549C>T XP_011539414.2:p.Leu5183=
XM_011541113.3:c.15546C>T XP_011539415.2:p.Leu5182=
XM_011541114.3:c.15546C>T XP_011539416.2:p.Leu5182=
XM_011541115.3:c.15540C>T XP_011539417.2:p.Leu5180=
XM_011541116.3:c.15531C>T XP_011539418.2:p.Leu5177=
XM_011541117.3:c.15480C>T XP_011539419.2:p.Leu5160=
XM_011541118.3:c.15477C>T XP_011539420.2:p.Leu5159=
XM_011541119.3:c.15444C>T XP_011539421.2:p.Leu5148=
XM_011541120.3:c.15441C>T XP_011539422.2:p.Leu5147=
XM_011541121.3:c.15408C>T XP_011539423.2:p.Leu5136=
XM_017000822.2:c.15543C>T XP_016856311.2:p.Leu5181=
XM_017000823.2:c.15516C>T XP_016856312.2:p.Leu5172=
XM_017000824.2:c.15462C>T XP_016856313.2:p.Leu5154=
XM_017000825.2:c.15447C>T XP_016856314.2:p.Leu5149=
XM_017000826.2:c.15444C>T XP_016856315.2:p.Leu5148=
XM_017000827.2:c.15429C>T XP_016856316.2:p.Leu5143=
XM_017000828.2:c.15405C>T XP_016856317.2:p.Leu5135=
XM_017000829.2:c.15357C>T XP_016856318.2:p.Leu5119=
XM_017000830.2:c.15306C>T XP_016856319.2:p.Leu5102=
NM_020765.3:c.15297C>T MANE Select NP_065816.2:p.Leu5099=