Canonical Allele Identifier: CA500685947

Linked Data

MyVariant Identifiers: chr17:g.54923095G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56845734G>A , CM000679.2:g.56845734G>A GRCh38
NC_000017.10:g.54923095G>A , CM000679.1:g.54923095G>A GRCh37
NC_000017.9:g.52278094G>A NCBI36
NG_033888.1:g.16636G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.669G>A (DGKE) MANE Select ENSP00000284061.3:p.Leu223=
ENST00000648772.1:c.*314-1944C>T (TRIM25) ENSP00000498158.1:n.*314-1944C>T
ENST00000284061.7:c.669G>A (DGKE) ENSP00000284061.3:p.Leu223=
ENST00000571084.1:n.205G>A (DGKE)
ENST00000572944.1:c.499G>A (DGKE)
ENST00000576869.5:n.817G>A (DGKE)
NM_003647.2:c.669G>A (DGKE) NP_003638.1:p.Leu223=
XM_011525394.1:c.723G>A (DGKE) XP_011523696.1:p.Leu241=
XM_011525395.1:c.723G>A (DGKE) XP_011523697.1:p.Leu241=
XM_011525396.1:c.723G>A (DGKE) XP_011523698.1:p.Leu241=
XM_011525397.1:c.723G>A (DGKE) XP_011523699.1:p.Leu241=
XM_011525398.1:c.213G>A (DGKE) XP_011523700.1:p.Leu71=
XR_934581.1:n.822G>A (DGKE)
XM_011525394.3:c.723G>A (DGKE) XP_011523696.1:p.Leu241=
XM_011525395.2:c.723G>A (DGKE) XP_011523697.1:p.Leu241=
XM_011525396.2:c.723G>A (DGKE) XP_011523698.1:p.Leu241=
XM_017025243.2:c.669G>A (DGKE) XP_016880732.1:p.Leu223=
XM_017025244.2:c.723G>A (DGKE) XP_016880733.1:p.Leu241=
XR_001752670.2:n.855G>A (DGKE)
XR_001752671.1:n.834G>A (DGKE)
XR_001752672.1:n.835G>A (DGKE)
XR_002958079.1:n.833G>A (DGKE)
NM_003647.3:c.669G>A (DGKE) MANE Select NP_003638.1:p.Leu223=