Canonical Allele Identifier: CA399927044

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.742C>T (DGKE) MANE Select ENSP00000284061.3:p.Gln248Ter
ENST00000648772.1:c.*314-2017G>A (TRIM25) ENSP00000498158.1:n.*314-2017G>A
ENST00000284061.7:c.742C>T (DGKE) ENSP00000284061.3:p.Gln248Ter
ENST00000571084.1:n.278C>T (DGKE)
ENST00000572944.1:c.572C>T (DGKE)
ENST00000576869.5:n.890C>T (DGKE)
NM_003647.2:c.742C>T (DGKE) NP_003638.1:p.Gln248Ter
XM_011525394.1:c.796C>T (DGKE) XP_011523696.1:p.Gln266Ter
XM_011525395.1:c.796C>T (DGKE) XP_011523697.1:p.Gln266Ter
XM_011525396.1:c.796C>T (DGKE) XP_011523698.1:p.Gln266Ter
XM_011525397.1:c.796C>T (DGKE) XP_011523699.1:p.Gln266Ter
XM_011525398.1:c.286C>T (DGKE) XP_011523700.1:p.Gln96Ter
XR_934581.1:n.895C>T (DGKE)
XM_011525394.3:c.796C>T (DGKE) XP_011523696.1:p.Gln266Ter
XM_011525395.2:c.796C>T (DGKE) XP_011523697.1:p.Gln266Ter
XM_011525396.2:c.796C>T (DGKE) XP_011523698.1:p.Gln266Ter
XM_017025243.2:c.742C>T (DGKE) XP_016880732.1:p.Gln248Ter
XM_017025244.2:c.796C>T (DGKE) XP_016880733.1:p.Gln266Ter
XR_001752670.2:n.928C>T (DGKE)
XR_001752671.1:n.907C>T (DGKE)
XR_001752672.1:n.908C>T (DGKE)
XR_002958079.1:n.906C>T (DGKE)
NM_003647.3:c.742C>T (DGKE) MANE Select NP_003638.1:p.Gln248Ter