Canonical Allele Identifier: CA500687304

Linked Data

MyVariant Identifiers: chr17:g.54926098G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848737G>A , CM000679.2:g.56848737G>A GRCh38
NC_000017.10:g.54926098G>A , CM000679.1:g.54926098G>A GRCh37
NC_000017.9:g.52281097G>A NCBI36
NG_033888.1:g.19639G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.930G>A (DGKE) MANE Select ENSP00000284061.3:p.Leu310=
ENST00000648772.1:c.*313+3206C>T (TRIM25) ENSP00000498158.1:n.*313+3206C>T
ENST00000284061.7:c.930G>A (DGKE) ENSP00000284061.3:p.Leu310=
ENST00000572944.1:c.760G>A (DGKE)
NM_003647.2:c.930G>A (DGKE) NP_003638.1:p.Leu310=
XM_011525394.1:c.984G>A (DGKE) XP_011523696.1:p.Leu328=
XM_011525395.1:c.984G>A (DGKE) XP_011523697.1:p.Leu328=
XM_011525396.1:c.984G>A (DGKE) XP_011523698.1:p.Leu328=
XM_011525397.1:c.984G>A (DGKE) XP_011523699.1:p.Leu328=
XM_011525398.1:c.474G>A (DGKE) XP_011523700.1:p.Leu158=
XR_934581.1:n.1083G>A (DGKE)
XM_011525394.3:c.984G>A (DGKE) XP_011523696.1:p.Leu328=
XM_011525395.2:c.984G>A (DGKE) XP_011523697.1:p.Leu328=
XM_011525396.2:c.984G>A (DGKE) XP_011523698.1:p.Leu328=
XM_017025243.2:c.1302G>A (DGKE) XP_016880732.1:p.Leu434=
XM_017025244.2:c.984G>A (DGKE) XP_016880733.1:p.Leu328=
XR_001752670.2:n.1488G>A (DGKE)
XR_001752671.1:n.1095G>A (DGKE)
XR_001752672.1:n.1096G>A (DGKE)
XR_002958079.1:n.1094G>A (DGKE)
NM_003647.3:c.930G>A (DGKE) MANE Select NP_003638.1:p.Leu310=