Canonical Allele Identifier: CA8663731

Linked Data

ClinVar Variation Id: 2397722
ClinVar RCV Id: RCV002739056
dbSNP Id: rs773312573

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56856590G>T , CM000679.2:g.56856590G>T GRCh38
NC_000017.10:g.54933951G>T , CM000679.1:g.54933951G>T GRCh37
NC_000017.9:g.52288950G>T NCBI36
NG_033888.1:g.27492G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682766.1:c.1364-1480C>A (TRIM25) ENSP00000507876.1:n.1364-1480C>A
ENST00000284061.8:c.1177G>T (DGKE) MANE Select ENSP00000284061.3:p.Ala393Ser
ENST00000648772.1:c.1364-1480C>A (TRIM25) ENSP00000498158.1:n.1364-1480C>A
ENST00000284061.7:c.1177G>T (DGKE) ENSP00000284061.3:p.Ala393Ser
ENST00000572944.1:c.1007G>T (DGKE)
NM_003647.2:c.1177G>T (DGKE) NP_003638.1:p.Ala393Ser
XM_011525394.1:c.1231G>T (DGKE) XP_011523696.1:p.Ala411Ser
XM_011525395.1:c.1231G>T (DGKE) XP_011523697.1:p.Ala411Ser
XM_011525396.1:c.1231G>T (DGKE) XP_011523698.1:p.Ala411Ser
XM_011525397.1:c.1231G>T (DGKE) XP_011523699.1:p.Ala411Ser
XM_011525398.1:c.721G>T (DGKE) XP_011523700.1:p.Ala241Ser
XR_934581.1:n.1330G>T (DGKE)
XM_011525394.3:c.1231G>T (DGKE) XP_011523696.1:p.Ala411Ser
XM_011525395.2:c.1231G>T (DGKE) XP_011523697.1:p.Ala411Ser
XM_011525396.2:c.1231G>T (DGKE) XP_011523698.1:p.Ala411Ser
XM_017025243.2:c.1549G>T (DGKE) XP_016880732.1:p.Ala517Ser
XM_017025244.2:c.1231G>T (DGKE) XP_016880733.1:p.Ala411Ser
XR_001752670.2:n.1735G>T (DGKE)
XR_001752671.1:n.1342G>T (DGKE)
XR_001752672.1:n.1343G>T (DGKE)
XR_002958079.1:n.1341G>T (DGKE)
NM_003647.3:c.1177G>T (DGKE) MANE Select NP_003638.1:p.Ala393Ser