Canonical Allele Identifier: CA399927951

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848796T>A , CM000679.2:g.56848796T>A GRCh38
NC_000017.10:g.54926157T>A , CM000679.1:g.54926157T>A GRCh37
NC_000017.9:g.52281156T>A NCBI36
NG_033888.1:g.19698T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.989T>A (DGKE) MANE Select ENSP00000284061.3:p.Ile330Asn
ENST00000648772.1:c.*313+3147A>T (TRIM25) ENSP00000498158.1:n.*313+3147A>T
ENST00000284061.7:c.989T>A (DGKE) ENSP00000284061.3:p.Ile330Asn
ENST00000572944.1:c.819T>A (DGKE)
NM_003647.2:c.989T>A (DGKE) NP_003638.1:p.Ile330Asn
XM_011525394.1:c.1043T>A (DGKE) XP_011523696.1:p.Ile348Asn
XM_011525395.1:c.1043T>A (DGKE) XP_011523697.1:p.Ile348Asn
XM_011525396.1:c.1043T>A (DGKE) XP_011523698.1:p.Ile348Asn
XM_011525397.1:c.1043T>A (DGKE) XP_011523699.1:p.Ile348Asn
XM_011525398.1:c.533T>A (DGKE) XP_011523700.1:p.Ile178Asn
XR_934581.1:n.1142T>A (DGKE)
XM_011525394.3:c.1043T>A (DGKE) XP_011523696.1:p.Ile348Asn
XM_011525395.2:c.1043T>A (DGKE) XP_011523697.1:p.Ile348Asn
XM_011525396.2:c.1043T>A (DGKE) XP_011523698.1:p.Ile348Asn
XM_017025243.2:c.1361T>A (DGKE) XP_016880732.1:p.Ile454Asn
XM_017025244.2:c.1043T>A (DGKE) XP_016880733.1:p.Ile348Asn
XR_001752670.2:n.1547T>A (DGKE)
XR_001752671.1:n.1154T>A (DGKE)
XR_001752672.1:n.1155T>A (DGKE)
XR_002958079.1:n.1153T>A (DGKE)
NM_003647.3:c.989T>A (DGKE) MANE Select NP_003638.1:p.Ile330Asn