Canonical Allele Identifier: CA399927932

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848787C>T , CM000679.2:g.56848787C>T GRCh38
NC_000017.10:g.54926148C>T , CM000679.1:g.54926148C>T GRCh37
NC_000017.9:g.52281147C>T NCBI36
NG_033888.1:g.19689C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.980C>T (DGKE) MANE Select ENSP00000284061.3:p.Ala327Val
ENST00000648772.1:c.*313+3156G>A (TRIM25) ENSP00000498158.1:n.*313+3156G>A
ENST00000284061.7:c.980C>T (DGKE) ENSP00000284061.3:p.Ala327Val
ENST00000572944.1:c.810C>T (DGKE)
NM_003647.2:c.980C>T (DGKE) NP_003638.1:p.Ala327Val
XM_011525394.1:c.1034C>T (DGKE) XP_011523696.1:p.Ala345Val
XM_011525395.1:c.1034C>T (DGKE) XP_011523697.1:p.Ala345Val
XM_011525396.1:c.1034C>T (DGKE) XP_011523698.1:p.Ala345Val
XM_011525397.1:c.1034C>T (DGKE) XP_011523699.1:p.Ala345Val
XM_011525398.1:c.524C>T (DGKE) XP_011523700.1:p.Ala175Val
XR_934581.1:n.1133C>T (DGKE)
XM_011525394.3:c.1034C>T (DGKE) XP_011523696.1:p.Ala345Val
XM_011525395.2:c.1034C>T (DGKE) XP_011523697.1:p.Ala345Val
XM_011525396.2:c.1034C>T (DGKE) XP_011523698.1:p.Ala345Val
XM_017025243.2:c.1352C>T (DGKE) XP_016880732.1:p.Ala451Val
XM_017025244.2:c.1034C>T (DGKE) XP_016880733.1:p.Ala345Val
XR_001752670.2:n.1538C>T (DGKE)
XR_001752671.1:n.1145C>T (DGKE)
XR_001752672.1:n.1146C>T (DGKE)
XR_002958079.1:n.1144C>T (DGKE)
NM_003647.3:c.980C>T (DGKE) MANE Select NP_003638.1:p.Ala327Val