Canonical Allele Identifier: CA399927045

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56845807C>G , CM000679.2:g.56845807C>G GRCh38
NC_000017.10:g.54923168C>G , CM000679.1:g.54923168C>G GRCh37
NC_000017.9:g.52278167C>G NCBI36
NG_033888.1:g.16709C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.742C>G (DGKE) MANE Select ENSP00000284061.3:p.Gln248Glu
ENST00000648772.1:c.*314-2017G>C (TRIM25) ENSP00000498158.1:n.*314-2017G>C
ENST00000284061.7:c.742C>G (DGKE) ENSP00000284061.3:p.Gln248Glu
ENST00000571084.1:n.278C>G (DGKE)
ENST00000572944.1:c.572C>G (DGKE)
ENST00000576869.5:n.890C>G (DGKE)
NM_003647.2:c.742C>G (DGKE) NP_003638.1:p.Gln248Glu
XM_011525394.1:c.796C>G (DGKE) XP_011523696.1:p.Gln266Glu
XM_011525395.1:c.796C>G (DGKE) XP_011523697.1:p.Gln266Glu
XM_011525396.1:c.796C>G (DGKE) XP_011523698.1:p.Gln266Glu
XM_011525397.1:c.796C>G (DGKE) XP_011523699.1:p.Gln266Glu
XM_011525398.1:c.286C>G (DGKE) XP_011523700.1:p.Gln96Glu
XR_934581.1:n.895C>G (DGKE)
XM_011525394.3:c.796C>G (DGKE) XP_011523696.1:p.Gln266Glu
XM_011525395.2:c.796C>G (DGKE) XP_011523697.1:p.Gln266Glu
XM_011525396.2:c.796C>G (DGKE) XP_011523698.1:p.Gln266Glu
XM_017025243.2:c.742C>G (DGKE) XP_016880732.1:p.Gln248Glu
XM_017025244.2:c.796C>G (DGKE) XP_016880733.1:p.Gln266Glu
XR_001752670.2:n.928C>G (DGKE)
XR_001752671.1:n.907C>G (DGKE)
XR_001752672.1:n.908C>G (DGKE)
XR_002958079.1:n.906C>G (DGKE)
NM_003647.3:c.742C>G (DGKE) MANE Select NP_003638.1:p.Gln248Glu