Canonical Allele Identifier: CA399926889

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56845765G>T , CM000679.2:g.56845765G>T GRCh38
NC_000017.10:g.54923126G>T , CM000679.1:g.54923126G>T GRCh37
NC_000017.9:g.52278125G>T NCBI36
NG_033888.1:g.16667G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.700G>T (DGKE) MANE Select ENSP00000284061.3:p.Glu234Ter
ENST00000648772.1:c.*314-1975C>A (TRIM25) ENSP00000498158.1:n.*314-1975C>A
ENST00000284061.7:c.700G>T (DGKE) ENSP00000284061.3:p.Glu234Ter
ENST00000571084.1:n.236G>T (DGKE)
ENST00000572944.1:c.530G>T (DGKE)
ENST00000576869.5:n.848G>T (DGKE)
NM_003647.2:c.700G>T (DGKE) NP_003638.1:p.Glu234Ter
XM_011525394.1:c.754G>T (DGKE) XP_011523696.1:p.Glu252Ter
XM_011525395.1:c.754G>T (DGKE) XP_011523697.1:p.Glu252Ter
XM_011525396.1:c.754G>T (DGKE) XP_011523698.1:p.Glu252Ter
XM_011525397.1:c.754G>T (DGKE) XP_011523699.1:p.Glu252Ter
XM_011525398.1:c.244G>T (DGKE) XP_011523700.1:p.Glu82Ter
XR_934581.1:n.853G>T (DGKE)
XM_011525394.3:c.754G>T (DGKE) XP_011523696.1:p.Glu252Ter
XM_011525395.2:c.754G>T (DGKE) XP_011523697.1:p.Glu252Ter
XM_011525396.2:c.754G>T (DGKE) XP_011523698.1:p.Glu252Ter
XM_017025243.2:c.700G>T (DGKE) XP_016880732.1:p.Glu234Ter
XM_017025244.2:c.754G>T (DGKE) XP_016880733.1:p.Glu252Ter
XR_001752670.2:n.886G>T (DGKE)
XR_001752671.1:n.865G>T (DGKE)
XR_001752672.1:n.866G>T (DGKE)
XR_002958079.1:n.864G>T (DGKE)
NM_003647.3:c.700G>T (DGKE) MANE Select NP_003638.1:p.Glu234Ter