Canonical Allele Identifier: CA338748123
Gene: UBR4 HGNC NCBI

Linked Data

gnomAD v4: 1-19077996-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.19077996G>T , CM000663.2:g.19077996G>T GRCh38
NC_000001.10:g.19404490G>T , CM000663.1:g.19404490G>T GRCh37
NC_000001.9:g.19277077G>T NCBI36
NG_027669.1:g.137257C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375254.8:c.15304C>A MANE Select ENSP00000364403.3:p.Leu5102Ile
ENST00000375224.1:c.2425C>A ENSP00000364372.1:p.Leu809Ile
ENST00000375225.7:c.529C>A ENSP00000364373.3:p.Leu177Ile
ENST00000375254.7:c.15304C>A ENSP00000364403.3:p.Leu5102Ile
ENST00000459947.5:n.3311C>A
NM_020765.2:c.15304C>A NP_065816.2:p.Leu5102Ile
XM_011541108.1:c.15457C>A XP_011539410.1:p.Leu5153Ile
XM_011541109.1:c.15454C>A XP_011539411.1:p.Leu5152Ile
XM_011541110.1:c.15454C>A XP_011539412.1:p.Leu5152Ile
XM_011541111.1:c.15454C>A XP_011539413.1:p.Leu5152Ile
XM_011541112.1:c.15442C>A XP_011539414.1:p.Leu5148Ile
XM_011541113.1:c.15439C>A XP_011539415.1:p.Leu5147Ile
XM_011541114.1:c.15439C>A XP_011539416.1:p.Leu5147Ile
XM_011541115.1:c.15433C>A XP_011539417.1:p.Leu5145Ile
XM_011541116.1:c.15424C>A XP_011539418.1:p.Leu5142Ile
XM_011541117.1:c.15373C>A XP_011539419.1:p.Leu5125Ile
XM_011541118.1:c.15370C>A XP_011539420.1:p.Leu5124Ile
XM_011541119.1:c.15337C>A XP_011539421.1:p.Leu5113Ile
XM_011541120.1:c.15334C>A XP_011539422.1:p.Leu5112Ile
XM_011541121.1:c.15301C>A XP_011539423.1:p.Leu5101Ile
XM_011541108.3:c.15571C>A XP_011539410.2:p.Leu5191Ile
XM_011541109.3:c.15568C>A XP_011539411.2:p.Leu5190Ile
XM_011541110.3:c.15568C>A XP_011539412.2:p.Leu5190Ile
XM_011541111.3:c.15568C>A XP_011539413.2:p.Leu5190Ile
XM_011541112.3:c.15556C>A XP_011539414.2:p.Leu5186Ile
XM_011541113.3:c.15553C>A XP_011539415.2:p.Leu5185Ile
XM_011541114.3:c.15553C>A XP_011539416.2:p.Leu5185Ile
XM_011541115.3:c.15547C>A XP_011539417.2:p.Leu5183Ile
XM_011541116.3:c.15538C>A XP_011539418.2:p.Leu5180Ile
XM_011541117.3:c.15487C>A XP_011539419.2:p.Leu5163Ile
XM_011541118.3:c.15484C>A XP_011539420.2:p.Leu5162Ile
XM_011541119.3:c.15451C>A XP_011539421.2:p.Leu5151Ile
XM_011541120.3:c.15448C>A XP_011539422.2:p.Leu5150Ile
XM_011541121.3:c.15415C>A XP_011539423.2:p.Leu5139Ile
XM_017000822.2:c.15550C>A XP_016856311.2:p.Leu5184Ile
XM_017000823.2:c.15523C>A XP_016856312.2:p.Leu5175Ile
XM_017000824.2:c.15469C>A XP_016856313.2:p.Leu5157Ile
XM_017000825.2:c.15454C>A XP_016856314.2:p.Leu5152Ile
XM_017000826.2:c.15451C>A XP_016856315.2:p.Leu5151Ile
XM_017000827.2:c.15436C>A XP_016856316.2:p.Leu5146Ile
XM_017000828.2:c.15412C>A XP_016856317.2:p.Leu5138Ile
XM_017000829.2:c.15364C>A XP_016856318.2:p.Leu5122Ile
XM_017000830.2:c.15313C>A XP_016856319.2:p.Leu5105Ile
NM_020765.3:c.15304C>A MANE Select NP_065816.2:p.Leu5102Ile