Canonical Allele Identifier: CA500687315

Linked Data

MyVariant Identifiers: chr17:g.54926107C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848746C>G , CM000679.2:g.56848746C>G GRCh38
NC_000017.10:g.54926107C>G , CM000679.1:g.54926107C>G GRCh37
NC_000017.9:g.52281106C>G NCBI36
NG_033888.1:g.19648C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284061.8:c.939C>G (DGKE) MANE Select ENSP00000284061.3:p.Gly313=
ENST00000648772.1:c.*313+3197G>C (TRIM25) ENSP00000498158.1:n.*313+3197G>C
ENST00000284061.7:c.939C>G (DGKE) ENSP00000284061.3:p.Gly313=
ENST00000572944.1:c.769C>G (DGKE)
NM_003647.2:c.939C>G (DGKE) NP_003638.1:p.Gly313=
XM_011525394.1:c.993C>G (DGKE) XP_011523696.1:p.Gly331=
XM_011525395.1:c.993C>G (DGKE) XP_011523697.1:p.Gly331=
XM_011525396.1:c.993C>G (DGKE) XP_011523698.1:p.Gly331=
XM_011525397.1:c.993C>G (DGKE) XP_011523699.1:p.Gly331=
XM_011525398.1:c.483C>G (DGKE) XP_011523700.1:p.Gly161=
XR_934581.1:n.1092C>G (DGKE)
XM_011525394.3:c.993C>G (DGKE) XP_011523696.1:p.Gly331=
XM_011525395.2:c.993C>G (DGKE) XP_011523697.1:p.Gly331=
XM_011525396.2:c.993C>G (DGKE) XP_011523698.1:p.Gly331=
XM_017025243.2:c.1311C>G (DGKE) XP_016880732.1:p.Gly437=
XM_017025244.2:c.993C>G (DGKE) XP_016880733.1:p.Gly331=
XR_001752670.2:n.1497C>G (DGKE)
XR_001752671.1:n.1104C>G (DGKE)
XR_001752672.1:n.1105C>G (DGKE)
XR_002958079.1:n.1103C>G (DGKE)
NM_003647.3:c.939C>G (DGKE) MANE Select NP_003638.1:p.Gly313=