Canonical Allele Identifier: CA698149821

Gene: DGKH

Linked Data

• dbSNP Id: rs1276413593
• gnomAD v3: 13-42180235-A-T
• gnomAD v4: 13-42180235-A-T
• MyVariant Identifiers: chr13:g.42754371A>T (hg19) ; chr13:g.42180235A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42180235A>T , CM000675.2:g.42180235A>T	GRCh38
NC_000013.10:g.42754371A>T , CM000675.1:g.42754371A>T	GRCh37
NC_000013.9:g.41652371A>T	NCBI36
NG_029191.2:g.145200A>T
NG_029191.3:g.145200A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337343.9:c.1538+2015A>T MANE Select	ENSP00000337572.4:n.1538+2015A>T
ENST00000261491.9:c.1538+2015A>T	ENSP00000261491.4:n.1538+2015A>T
ENST00000337343.8:c.1538+2015A>T	ENSP00000337572.4:n.1538+2015A>T
ENST00000379274.6:c.1538+2015A>T	ENSP00000368576.3:n.1538+2015A>T
ENST00000498255.6:n.1769+2015A>T
ENST00000536612.3:c.1130+2015A>T	ENSP00000445114.2:n.1130+2015A>T
ENST00000626247.2:c.*627+2015A>T	ENSP00000486329.1:n.*627+2015A>T
ENST00000627777.2:c.1130+2015A>T	ENSP00000486838.1:n.1130+2015A>T
ENST00000628433.2:c.1130+2015A>T	ENSP00000485809.1:n.1130+2015A>T
NM_001204504.2:c.1538+2015A>T	NP_001191433.1:n.1538+2015A>T
NM_001204505.2:c.1130+2015A>T	NP_001191434.1:n.1130+2015A>T
NM_001204506.2:c.1130+2015A>T	NP_001191435.1:n.1130+2015A>T
NM_001297429.1:c.803+2015A>T	NP_001284358.1:n.803+2015A>T
NM_152910.5:c.1538+2015A>T	NP_690874.2:n.1538+2015A>T
NM_178009.4:c.1538+2015A>T	NP_821077.1:n.1538+2015A>T
NR_123714.1:n.1262+2015A>T
NR_123715.1:n.1875+2015A>T
NM_001204505.3:c.1130+2015A>T	NP_001191434.1:n.1130+2015A>T
NM_001204506.3:c.1130+2015A>T	NP_001191435.1:n.1130+2015A>T
NM_001297429.2:c.803+2015A>T	NP_001284358.1:n.803+2015A>T
NM_152910.6:c.1538+2015A>T	NP_690874.2:n.1538+2015A>T
NM_178009.5:c.1538+2015A>T MANE Select	NP_821077.1:n.1538+2015A>T
NR_123714.2:n.1246+2015A>T
NR_123715.2:n.1859+2015A>T
NM_001204504.3:c.1538+2015A>T	NP_001191433.1:n.1538+2015A>T