Canonical Allele Identifier: CA399926666

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56845702C>G , CM000679.2:g.56845702C>G GRCh38
NC_000017.10:g.54923063C>G , CM000679.1:g.54923063C>G GRCh37
NC_000017.9:g.52278062C>G NCBI36
NG_033888.1:g.16604C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.637C>G (DGKE) MANE Select ENSP00000284061.3:p.Leu213Val
ENST00000648772.1:c.*314-1912G>C (TRIM25) ENSP00000498158.1:n.*314-1912G>C
ENST00000284061.7:c.637C>G (DGKE) ENSP00000284061.3:p.Leu213Val
ENST00000571084.1:n.173C>G (DGKE)
ENST00000572944.1:c.467C>G (DGKE)
ENST00000576869.5:n.785C>G (DGKE)
NM_003647.2:c.637C>G (DGKE) NP_003638.1:p.Leu213Val
XM_011525394.1:c.691C>G (DGKE) XP_011523696.1:p.Leu231Val
XM_011525395.1:c.691C>G (DGKE) XP_011523697.1:p.Leu231Val
XM_011525396.1:c.691C>G (DGKE) XP_011523698.1:p.Leu231Val
XM_011525397.1:c.691C>G (DGKE) XP_011523699.1:p.Leu231Val
XM_011525398.1:c.181C>G (DGKE) XP_011523700.1:p.Leu61Val
XR_934581.1:n.790C>G (DGKE)
XM_011525394.3:c.691C>G (DGKE) XP_011523696.1:p.Leu231Val
XM_011525395.2:c.691C>G (DGKE) XP_011523697.1:p.Leu231Val
XM_011525396.2:c.691C>G (DGKE) XP_011523698.1:p.Leu231Val
XM_017025243.2:c.637C>G (DGKE) XP_016880732.1:p.Leu213Val
XM_017025244.2:c.691C>G (DGKE) XP_016880733.1:p.Leu231Val
XR_001752670.2:n.823C>G (DGKE)
XR_001752671.1:n.802C>G (DGKE)
XR_001752672.1:n.803C>G (DGKE)
XR_002958079.1:n.801C>G (DGKE)
NM_003647.3:c.637C>G (DGKE) MANE Select NP_003638.1:p.Leu213Val