Canonical Allele Identifier: CA399927961

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848801G>T , CM000679.2:g.56848801G>T GRCh38
NC_000017.10:g.54926162G>T , CM000679.1:g.54926162G>T GRCh37
NC_000017.9:g.52281161G>T NCBI36
NG_033888.1:g.19703G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000284061.8:c.994G>T (DGKE) MANE Select ENSP00000284061.3:p.Val332Phe
ENST00000648772.1:c.*313+3142C>A (TRIM25) ENSP00000498158.1:n.*313+3142C>A
ENST00000284061.7:c.994G>T (DGKE) ENSP00000284061.3:p.Val332Phe
ENST00000572944.1:c.824G>T (DGKE)
NM_003647.2:c.994G>T (DGKE) NP_003638.1:p.Val332Phe
XM_011525394.1:c.1048G>T (DGKE) XP_011523696.1:p.Val350Phe
XM_011525395.1:c.1048G>T (DGKE) XP_011523697.1:p.Val350Phe
XM_011525396.1:c.1048G>T (DGKE) XP_011523698.1:p.Val350Phe
XM_011525397.1:c.1048G>T (DGKE) XP_011523699.1:p.Val350Phe
XM_011525398.1:c.538G>T (DGKE) XP_011523700.1:p.Val180Phe
XR_934581.1:n.1147G>T (DGKE)
XM_011525394.3:c.1048G>T (DGKE) XP_011523696.1:p.Val350Phe
XM_011525395.2:c.1048G>T (DGKE) XP_011523697.1:p.Val350Phe
XM_011525396.2:c.1048G>T (DGKE) XP_011523698.1:p.Val350Phe
XM_017025243.2:c.1366G>T (DGKE) XP_016880732.1:p.Val456Phe
XM_017025244.2:c.1048G>T (DGKE) XP_016880733.1:p.Val350Phe
XR_001752670.2:n.1552G>T (DGKE)
XR_001752671.1:n.1159G>T (DGKE)
XR_001752672.1:n.1160G>T (DGKE)
XR_002958079.1:n.1158G>T (DGKE)
NM_003647.3:c.994G>T (DGKE) MANE Select NP_003638.1:p.Val332Phe