Canonical Allele Identifier: CA500687359

Linked Data

MyVariant Identifiers: chr17:g.54926149T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848788T>G , CM000679.2:g.56848788T>G GRCh38
NC_000017.10:g.54926149T>G , CM000679.1:g.54926149T>G GRCh37
NC_000017.9:g.52281148T>G NCBI36
NG_033888.1:g.19690T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284061.8:c.981T>G (DGKE) MANE Select ENSP00000284061.3:p.Ala327=
ENST00000648772.1:c.*313+3155A>C (TRIM25) ENSP00000498158.1:n.*313+3155A>C
ENST00000284061.7:c.981T>G (DGKE) ENSP00000284061.3:p.Ala327=
ENST00000572944.1:c.811T>G (DGKE)
NM_003647.2:c.981T>G (DGKE) NP_003638.1:p.Ala327=
XM_011525394.1:c.1035T>G (DGKE) XP_011523696.1:p.Ala345=
XM_011525395.1:c.1035T>G (DGKE) XP_011523697.1:p.Ala345=
XM_011525396.1:c.1035T>G (DGKE) XP_011523698.1:p.Ala345=
XM_011525397.1:c.1035T>G (DGKE) XP_011523699.1:p.Ala345=
XM_011525398.1:c.525T>G (DGKE) XP_011523700.1:p.Ala175=
XR_934581.1:n.1134T>G (DGKE)
XM_011525394.3:c.1035T>G (DGKE) XP_011523696.1:p.Ala345=
XM_011525395.2:c.1035T>G (DGKE) XP_011523697.1:p.Ala345=
XM_011525396.2:c.1035T>G (DGKE) XP_011523698.1:p.Ala345=
XM_017025243.2:c.1353T>G (DGKE) XP_016880732.1:p.Ala451=
XM_017025244.2:c.1035T>G (DGKE) XP_016880733.1:p.Ala345=
XR_001752670.2:n.1539T>G (DGKE)
XR_001752671.1:n.1146T>G (DGKE)
XR_001752672.1:n.1147T>G (DGKE)
XR_002958079.1:n.1145T>G (DGKE)
NM_003647.3:c.981T>G (DGKE) MANE Select NP_003638.1:p.Ala327=