Canonical Allele Identifier: CA399928058

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848847T>G , CM000679.2:g.56848847T>G GRCh38
NC_000017.10:g.54926208T>G , CM000679.1:g.54926208T>G GRCh37
NC_000017.9:g.52281207T>G NCBI36
NG_033888.1:g.19749T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.1040T>G (DGKE) MANE Select ENSP00000284061.3:p.Leu347Arg
ENST00000648772.1:c.*313+3096A>C (TRIM25) ENSP00000498158.1:n.*313+3096A>C
ENST00000284061.7:c.1040T>G (DGKE) ENSP00000284061.3:p.Leu347Arg
ENST00000572944.1:c.870T>G (DGKE)
NM_003647.2:c.1040T>G (DGKE) NP_003638.1:p.Leu347Arg
XM_011525394.1:c.1094T>G (DGKE) XP_011523696.1:p.Leu365Arg
XM_011525395.1:c.1094T>G (DGKE) XP_011523697.1:p.Leu365Arg
XM_011525396.1:c.1094T>G (DGKE) XP_011523698.1:p.Leu365Arg
XM_011525397.1:c.1094T>G (DGKE) XP_011523699.1:p.Leu365Arg
XM_011525398.1:c.584T>G (DGKE) XP_011523700.1:p.Leu195Arg
XR_934581.1:n.1193T>G (DGKE)
XM_011525394.3:c.1094T>G (DGKE) XP_011523696.1:p.Leu365Arg
XM_011525395.2:c.1094T>G (DGKE) XP_011523697.1:p.Leu365Arg
XM_011525396.2:c.1094T>G (DGKE) XP_011523698.1:p.Leu365Arg
XM_017025243.2:c.1412T>G (DGKE) XP_016880732.1:p.Leu471Arg
XM_017025244.2:c.1094T>G (DGKE) XP_016880733.1:p.Leu365Arg
XR_001752670.2:n.1598T>G (DGKE)
XR_001752671.1:n.1205T>G (DGKE)
XR_001752672.1:n.1206T>G (DGKE)
XR_002958079.1:n.1204T>G (DGKE)
NM_003647.3:c.1040T>G (DGKE) MANE Select NP_003638.1:p.Leu347Arg