Canonical Allele Identifier: CA416453113
Gene: UBR4 HGNC NCBI

Linked Data

gnomAD v4: 1-19078012-A-G
MyVariant Identifiers: chr1:g.19404506A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.19078012A>G , CM000663.2:g.19078012A>G GRCh38
NC_000001.10:g.19404506A>G , CM000663.1:g.19404506A>G GRCh37
NC_000001.9:g.19277093A>G NCBI36
NG_027669.1:g.137241T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375254.8:c.15288T>C MANE Select ENSP00000364403.3:p.Phe5096=
ENST00000375224.1:c.2409T>C ENSP00000364372.1:p.Phe803=
ENST00000375225.7:c.513T>C ENSP00000364373.3:p.Phe171=
ENST00000375254.7:c.15288T>C ENSP00000364403.3:p.Phe5096=
ENST00000459947.5:n.3295T>C
NM_020765.2:c.15288T>C NP_065816.2:p.Phe5096=
XM_011541108.1:c.15441T>C XP_011539410.1:p.Phe5147=
XM_011541109.1:c.15438T>C XP_011539411.1:p.Phe5146=
XM_011541110.1:c.15438T>C XP_011539412.1:p.Phe5146=
XM_011541111.1:c.15438T>C XP_011539413.1:p.Phe5146=
XM_011541112.1:c.15426T>C XP_011539414.1:p.Phe5142=
XM_011541113.1:c.15423T>C XP_011539415.1:p.Phe5141=
XM_011541114.1:c.15423T>C XP_011539416.1:p.Phe5141=
XM_011541115.1:c.15417T>C XP_011539417.1:p.Phe5139=
XM_011541116.1:c.15408T>C XP_011539418.1:p.Phe5136=
XM_011541117.1:c.15357T>C XP_011539419.1:p.Phe5119=
XM_011541118.1:c.15354T>C XP_011539420.1:p.Phe5118=
XM_011541119.1:c.15321T>C XP_011539421.1:p.Phe5107=
XM_011541120.1:c.15318T>C XP_011539422.1:p.Phe5106=
XM_011541121.1:c.15285T>C XP_011539423.1:p.Phe5095=
XM_011541108.3:c.15555T>C XP_011539410.2:p.Phe5185=
XM_011541109.3:c.15552T>C XP_011539411.2:p.Phe5184=
XM_011541110.3:c.15552T>C XP_011539412.2:p.Phe5184=
XM_011541111.3:c.15552T>C XP_011539413.2:p.Phe5184=
XM_011541112.3:c.15540T>C XP_011539414.2:p.Phe5180=
XM_011541113.3:c.15537T>C XP_011539415.2:p.Phe5179=
XM_011541114.3:c.15537T>C XP_011539416.2:p.Phe5179=
XM_011541115.3:c.15531T>C XP_011539417.2:p.Phe5177=
XM_011541116.3:c.15522T>C XP_011539418.2:p.Phe5174=
XM_011541117.3:c.15471T>C XP_011539419.2:p.Phe5157=
XM_011541118.3:c.15468T>C XP_011539420.2:p.Phe5156=
XM_011541119.3:c.15435T>C XP_011539421.2:p.Phe5145=
XM_011541120.3:c.15432T>C XP_011539422.2:p.Phe5144=
XM_011541121.3:c.15399T>C XP_011539423.2:p.Phe5133=
XM_017000822.2:c.15534T>C XP_016856311.2:p.Phe5178=
XM_017000823.2:c.15507T>C XP_016856312.2:p.Phe5169=
XM_017000824.2:c.15453T>C XP_016856313.2:p.Phe5151=
XM_017000825.2:c.15438T>C XP_016856314.2:p.Phe5146=
XM_017000826.2:c.15435T>C XP_016856315.2:p.Phe5145=
XM_017000827.2:c.15420T>C XP_016856316.2:p.Phe5140=
XM_017000828.2:c.15396T>C XP_016856317.2:p.Phe5132=
XM_017000829.2:c.15348T>C XP_016856318.2:p.Phe5116=
XM_017000830.2:c.15297T>C XP_016856319.2:p.Phe5099=
NM_020765.3:c.15288T>C MANE Select NP_065816.2:p.Phe5096=