Canonical Allele Identifier: CA500687299

Linked Data

MyVariant Identifiers: chr17:g.54926095T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848734T>A , CM000679.2:g.56848734T>A GRCh38
NC_000017.10:g.54926095T>A , CM000679.1:g.54926095T>A GRCh37
NC_000017.9:g.52281094T>A NCBI36
NG_033888.1:g.19636T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.927T>A (DGKE) MANE Select ENSP00000284061.3:p.Pro309=
ENST00000648772.1:c.*313+3209A>T (TRIM25) ENSP00000498158.1:n.*313+3209A>T
ENST00000284061.7:c.927T>A (DGKE) ENSP00000284061.3:p.Pro309=
ENST00000572944.1:c.757T>A (DGKE)
NM_003647.2:c.927T>A (DGKE) NP_003638.1:p.Pro309=
XM_011525394.1:c.981T>A (DGKE) XP_011523696.1:p.Pro327=
XM_011525395.1:c.981T>A (DGKE) XP_011523697.1:p.Pro327=
XM_011525396.1:c.981T>A (DGKE) XP_011523698.1:p.Pro327=
XM_011525397.1:c.981T>A (DGKE) XP_011523699.1:p.Pro327=
XM_011525398.1:c.471T>A (DGKE) XP_011523700.1:p.Pro157=
XR_934581.1:n.1080T>A (DGKE)
XM_011525394.3:c.981T>A (DGKE) XP_011523696.1:p.Pro327=
XM_011525395.2:c.981T>A (DGKE) XP_011523697.1:p.Pro327=
XM_011525396.2:c.981T>A (DGKE) XP_011523698.1:p.Pro327=
XM_017025243.2:c.1299T>A (DGKE) XP_016880732.1:p.Pro433=
XM_017025244.2:c.981T>A (DGKE) XP_016880733.1:p.Pro327=
XR_001752670.2:n.1485T>A (DGKE)
XR_001752671.1:n.1092T>A (DGKE)
XR_001752672.1:n.1093T>A (DGKE)
XR_002958079.1:n.1091T>A (DGKE)
NM_003647.3:c.927T>A (DGKE) MANE Select NP_003638.1:p.Pro309=