Canonical Allele Identifier: CA399927037

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56845804G>A , CM000679.2:g.56845804G>A GRCh38
NC_000017.10:g.54923165G>A , CM000679.1:g.54923165G>A GRCh37
NC_000017.9:g.52278164G>A NCBI36
NG_033888.1:g.16706G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000284061.8:c.739G>A (DGKE) MANE Select ENSP00000284061.3:p.Val247Ile
ENST00000648772.1:c.*314-2014C>T (TRIM25) ENSP00000498158.1:n.*314-2014C>T
ENST00000284061.7:c.739G>A (DGKE) ENSP00000284061.3:p.Val247Ile
ENST00000571084.1:n.275G>A (DGKE)
ENST00000572944.1:c.569G>A (DGKE)
ENST00000576869.5:n.887G>A (DGKE)
NM_003647.2:c.739G>A (DGKE) NP_003638.1:p.Val247Ile
XM_011525394.1:c.793G>A (DGKE) XP_011523696.1:p.Val265Ile
XM_011525395.1:c.793G>A (DGKE) XP_011523697.1:p.Val265Ile
XM_011525396.1:c.793G>A (DGKE) XP_011523698.1:p.Val265Ile
XM_011525397.1:c.793G>A (DGKE) XP_011523699.1:p.Val265Ile
XM_011525398.1:c.283G>A (DGKE) XP_011523700.1:p.Val95Ile
XR_934581.1:n.892G>A (DGKE)
XM_011525394.3:c.793G>A (DGKE) XP_011523696.1:p.Val265Ile
XM_011525395.2:c.793G>A (DGKE) XP_011523697.1:p.Val265Ile
XM_011525396.2:c.793G>A (DGKE) XP_011523698.1:p.Val265Ile
XM_017025243.2:c.739G>A (DGKE) XP_016880732.1:p.Val247Ile
XM_017025244.2:c.793G>A (DGKE) XP_016880733.1:p.Val265Ile
XR_001752670.2:n.925G>A (DGKE)
XR_001752671.1:n.904G>A (DGKE)
XR_001752672.1:n.905G>A (DGKE)
XR_002958079.1:n.903G>A (DGKE)
NM_003647.3:c.739G>A (DGKE) MANE Select NP_003638.1:p.Val247Ile