Canonical Allele Identifier: CA399927020

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56845796T>C , CM000679.2:g.56845796T>C GRCh38
NC_000017.10:g.54923157T>C , CM000679.1:g.54923157T>C GRCh37
NC_000017.9:g.52278156T>C NCBI36
NG_033888.1:g.16698T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000284061.8:c.731T>C (DGKE) MANE Select ENSP00000284061.3:p.Leu244Ser
ENST00000648772.1:c.*314-2006A>G (TRIM25) ENSP00000498158.1:n.*314-2006A>G
ENST00000284061.7:c.731T>C (DGKE) ENSP00000284061.3:p.Leu244Ser
ENST00000571084.1:n.267T>C (DGKE)
ENST00000572944.1:c.561T>C (DGKE)
ENST00000576869.5:n.879T>C (DGKE)
NM_003647.2:c.731T>C (DGKE) NP_003638.1:p.Leu244Ser
XM_011525394.1:c.785T>C (DGKE) XP_011523696.1:p.Leu262Ser
XM_011525395.1:c.785T>C (DGKE) XP_011523697.1:p.Leu262Ser
XM_011525396.1:c.785T>C (DGKE) XP_011523698.1:p.Leu262Ser
XM_011525397.1:c.785T>C (DGKE) XP_011523699.1:p.Leu262Ser
XM_011525398.1:c.275T>C (DGKE) XP_011523700.1:p.Leu92Ser
XR_934581.1:n.884T>C (DGKE)
XM_011525394.3:c.785T>C (DGKE) XP_011523696.1:p.Leu262Ser
XM_011525395.2:c.785T>C (DGKE) XP_011523697.1:p.Leu262Ser
XM_011525396.2:c.785T>C (DGKE) XP_011523698.1:p.Leu262Ser
XM_017025243.2:c.731T>C (DGKE) XP_016880732.1:p.Leu244Ser
XM_017025244.2:c.785T>C (DGKE) XP_016880733.1:p.Leu262Ser
XR_001752670.2:n.917T>C (DGKE)
XR_001752671.1:n.896T>C (DGKE)
XR_001752672.1:n.897T>C (DGKE)
XR_002958079.1:n.895T>C (DGKE)
NM_003647.3:c.731T>C (DGKE) MANE Select NP_003638.1:p.Leu244Ser