Canonical Allele Identifier: CA399927870

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848759A>C , CM000679.2:g.56848759A>C GRCh38
NC_000017.10:g.54926120A>C , CM000679.1:g.54926120A>C GRCh37
NC_000017.9:g.52281119A>C NCBI36
NG_033888.1:g.19661A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.952A>C (DGKE) MANE Select ENSP00000284061.3:p.Asn318His
ENST00000648772.1:c.*313+3184T>G (TRIM25) ENSP00000498158.1:n.*313+3184T>G
ENST00000284061.7:c.952A>C (DGKE) ENSP00000284061.3:p.Asn318His
ENST00000572944.1:c.782A>C (DGKE)
NM_003647.2:c.952A>C (DGKE) NP_003638.1:p.Asn318His
XM_011525394.1:c.1006A>C (DGKE) XP_011523696.1:p.Asn336His
XM_011525395.1:c.1006A>C (DGKE) XP_011523697.1:p.Asn336His
XM_011525396.1:c.1006A>C (DGKE) XP_011523698.1:p.Asn336His
XM_011525397.1:c.1006A>C (DGKE) XP_011523699.1:p.Asn336His
XM_011525398.1:c.496A>C (DGKE) XP_011523700.1:p.Asn166His
XR_934581.1:n.1105A>C (DGKE)
XM_011525394.3:c.1006A>C (DGKE) XP_011523696.1:p.Asn336His
XM_011525395.2:c.1006A>C (DGKE) XP_011523697.1:p.Asn336His
XM_011525396.2:c.1006A>C (DGKE) XP_011523698.1:p.Asn336His
XM_017025243.2:c.1324A>C (DGKE) XP_016880732.1:p.Asn442His
XM_017025244.2:c.1006A>C (DGKE) XP_016880733.1:p.Asn336His
XR_001752670.2:n.1510A>C (DGKE)
XR_001752671.1:n.1117A>C (DGKE)
XR_001752672.1:n.1118A>C (DGKE)
XR_002958079.1:n.1116A>C (DGKE)
NM_003647.3:c.952A>C (DGKE) MANE Select NP_003638.1:p.Asn318His