Canonical Allele Identifier: CA143787

Gene: DGKE C17orf67

Linked Data

• ClinVar Variation Id: 50789
• ClinVar RCV Id: RCV000043570 ; RCV000122612
• dbSNP Id: rs148605410
• gnomAD v4: 17-56834827-C-A
• COSMIC: COSM706760
• MyVariant Identifiers: chr17:g.54912188C>A (hg19) ; chr17:g.56834827C>A (hg38)
• PubMed: PMID:23542698 ; PMID:24747643

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56834827C>A , CM000679.2:g.56834827C>A	GRCh38
NC_000017.10:g.54912188C>A , CM000679.1:g.54912188C>A	GRCh37
NC_000017.9:g.52267187C>A	NCBI36
NG_033888.1:g.5729C>A
NG_054932.1:g.4164G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284061.8:c.32C>A (DGKE) MANE Select	ENSP00000284061.3:p.Ser11Ter
ENST00000284061.7:c.32C>A (DGKE)	ENSP00000284061.3:p.Ser11Ter
ENST00000487705.1:n.285+3662G>T (C17orf67)
ENST00000572810.1:c.32C>A (DGKE)	ENSP00000459295.1:p.Ser11Ter
ENST00000576869.5:n.180C>A (DGKE)
NM_003647.2:c.32C>A (DGKE)	NP_003638.1:p.Ser11Ter
XM_011525394.1:c.86C>A (DGKE)	XP_011523696.1:p.Ser29Ter
XM_011525395.1:c.86C>A (DGKE)	XP_011523697.1:p.Ser29Ter
XM_011525396.1:c.86C>A (DGKE)	XP_011523698.1:p.Ser29Ter
XM_011525397.1:c.86C>A (DGKE)	XP_011523699.1:p.Ser29Ter
XR_934581.1:n.185C>A (DGKE)
XM_011525394.3:c.86C>A (DGKE)	XP_011523696.1:p.Ser29Ter
XM_011525395.2:c.86C>A (DGKE)	XP_011523697.1:p.Ser29Ter
XM_011525396.2:c.86C>A (DGKE)	XP_011523698.1:p.Ser29Ter
XM_017025243.2:c.32C>A (DGKE)	XP_016880732.1:p.Ser11Ter
XM_017025244.2:c.86C>A (DGKE)	XP_016880733.1:p.Ser29Ter
XR_001752670.2:n.218C>A (DGKE)
XR_001752671.1:n.197C>A (DGKE)
XR_001752672.1:n.198C>A (DGKE)
XR_002958079.1:n.196C>A (DGKE)
NM_003647.3:c.32C>A (DGKE) MANE Select	NP_003638.1:p.Ser11Ter