Canonical Allele Identifier: CA500687372

Linked Data

MyVariant Identifiers: chr17:g.54926161A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848800A>T , CM000679.2:g.56848800A>T GRCh38
NC_000017.10:g.54926161A>T , CM000679.1:g.54926161A>T GRCh37
NC_000017.9:g.52281160A>T NCBI36
NG_033888.1:g.19702A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.993A>T (DGKE) MANE Select ENSP00000284061.3:p.Pro331=
ENST00000648772.1:c.*313+3143T>A (TRIM25) ENSP00000498158.1:n.*313+3143T>A
ENST00000284061.7:c.993A>T (DGKE) ENSP00000284061.3:p.Pro331=
ENST00000572944.1:c.823A>T (DGKE)
NM_003647.2:c.993A>T (DGKE) NP_003638.1:p.Pro331=
XM_011525394.1:c.1047A>T (DGKE) XP_011523696.1:p.Pro349=
XM_011525395.1:c.1047A>T (DGKE) XP_011523697.1:p.Pro349=
XM_011525396.1:c.1047A>T (DGKE) XP_011523698.1:p.Pro349=
XM_011525397.1:c.1047A>T (DGKE) XP_011523699.1:p.Pro349=
XM_011525398.1:c.537A>T (DGKE) XP_011523700.1:p.Pro179=
XR_934581.1:n.1146A>T (DGKE)
XM_011525394.3:c.1047A>T (DGKE) XP_011523696.1:p.Pro349=
XM_011525395.2:c.1047A>T (DGKE) XP_011523697.1:p.Pro349=
XM_011525396.2:c.1047A>T (DGKE) XP_011523698.1:p.Pro349=
XM_017025243.2:c.1365A>T (DGKE) XP_016880732.1:p.Pro455=
XM_017025244.2:c.1047A>T (DGKE) XP_016880733.1:p.Pro349=
XR_001752670.2:n.1551A>T (DGKE)
XR_001752671.1:n.1158A>T (DGKE)
XR_001752672.1:n.1159A>T (DGKE)
XR_002958079.1:n.1157A>T (DGKE)
NM_003647.3:c.993A>T (DGKE) MANE Select NP_003638.1:p.Pro331=