Canonical Allele Identifier: CA500686019

Linked Data

MyVariant Identifiers: chr17:g.54923158G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56845797G>A , CM000679.2:g.56845797G>A GRCh38
NC_000017.10:g.54923158G>A , CM000679.1:g.54923158G>A GRCh37
NC_000017.9:g.52278157G>A NCBI36
NG_033888.1:g.16699G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000284061.8:c.732G>A (DGKE) MANE Select ENSP00000284061.3:p.Leu244=
ENST00000648772.1:c.*314-2007C>T (TRIM25) ENSP00000498158.1:n.*314-2007C>T
ENST00000284061.7:c.732G>A (DGKE) ENSP00000284061.3:p.Leu244=
ENST00000571084.1:n.268G>A (DGKE)
ENST00000572944.1:c.562G>A (DGKE)
ENST00000576869.5:n.880G>A (DGKE)
NM_003647.2:c.732G>A (DGKE) NP_003638.1:p.Leu244=
XM_011525394.1:c.786G>A (DGKE) XP_011523696.1:p.Leu262=
XM_011525395.1:c.786G>A (DGKE) XP_011523697.1:p.Leu262=
XM_011525396.1:c.786G>A (DGKE) XP_011523698.1:p.Leu262=
XM_011525397.1:c.786G>A (DGKE) XP_011523699.1:p.Leu262=
XM_011525398.1:c.276G>A (DGKE) XP_011523700.1:p.Leu92=
XR_934581.1:n.885G>A (DGKE)
XM_011525394.3:c.786G>A (DGKE) XP_011523696.1:p.Leu262=
XM_011525395.2:c.786G>A (DGKE) XP_011523697.1:p.Leu262=
XM_011525396.2:c.786G>A (DGKE) XP_011523698.1:p.Leu262=
XM_017025243.2:c.732G>A (DGKE) XP_016880732.1:p.Leu244=
XM_017025244.2:c.786G>A (DGKE) XP_016880733.1:p.Leu262=
XR_001752670.2:n.918G>A (DGKE)
XR_001752671.1:n.897G>A (DGKE)
XR_001752672.1:n.898G>A (DGKE)
XR_002958079.1:n.896G>A (DGKE)
NM_003647.3:c.732G>A (DGKE) MANE Select NP_003638.1:p.Leu244=