Canonical Allele Identifier: CA500687450

Linked Data

MyVariant Identifiers: chr17:g.54926207C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848846C>T , CM000679.2:g.56848846C>T GRCh38
NC_000017.10:g.54926207C>T , CM000679.1:g.54926207C>T GRCh37
NC_000017.9:g.52281206C>T NCBI36
NG_033888.1:g.19748C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.1039C>T (DGKE) MANE Select ENSP00000284061.3:p.Leu347=
ENST00000648772.1:c.*313+3097G>A (TRIM25) ENSP00000498158.1:n.*313+3097G>A
ENST00000284061.7:c.1039C>T (DGKE) ENSP00000284061.3:p.Leu347=
ENST00000572944.1:c.869C>T (DGKE)
NM_003647.2:c.1039C>T (DGKE) NP_003638.1:p.Leu347=
XM_011525394.1:c.1093C>T (DGKE) XP_011523696.1:p.Leu365=
XM_011525395.1:c.1093C>T (DGKE) XP_011523697.1:p.Leu365=
XM_011525396.1:c.1093C>T (DGKE) XP_011523698.1:p.Leu365=
XM_011525397.1:c.1093C>T (DGKE) XP_011523699.1:p.Leu365=
XM_011525398.1:c.583C>T (DGKE) XP_011523700.1:p.Leu195=
XR_934581.1:n.1192C>T (DGKE)
XM_011525394.3:c.1093C>T (DGKE) XP_011523696.1:p.Leu365=
XM_011525395.2:c.1093C>T (DGKE) XP_011523697.1:p.Leu365=
XM_011525396.2:c.1093C>T (DGKE) XP_011523698.1:p.Leu365=
XM_017025243.2:c.1411C>T (DGKE) XP_016880732.1:p.Leu471=
XM_017025244.2:c.1093C>T (DGKE) XP_016880733.1:p.Leu365=
XR_001752670.2:n.1597C>T (DGKE)
XR_001752671.1:n.1204C>T (DGKE)
XR_001752672.1:n.1205C>T (DGKE)
XR_002958079.1:n.1203C>T (DGKE)
NM_003647.3:c.1039C>T (DGKE) MANE Select NP_003638.1:p.Leu347=