Canonical Allele Identifier: CA13786957

Gene: DGKH

Linked Data

• dbSNP Id: rs4142110
• gnomAD v2: 13-42754522-T-C
• gnomAD v3: 13-42180386-T-C
• gnomAD v4: 13-42180386-T-C
• MyVariant Identifiers: chr13:g.42754522T>C (hg19) ; chr13:g.42180386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42180386T>C , CM000675.2:g.42180386T>C	GRCh38
NC_000013.10:g.42754522T>C , CM000675.1:g.42754522T>C	GRCh37
NC_000013.9:g.41652522T>C	NCBI36
NG_029191.2:g.145351T>C
NG_029191.3:g.145351T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337343.9:c.1538+2166T>C MANE Select	ENSP00000337572.4:n.1538+2166T>C
ENST00000261491.9:c.1538+2166T>C	ENSP00000261491.4:n.1538+2166T>C
ENST00000337343.8:c.1538+2166T>C	ENSP00000337572.4:n.1538+2166T>C
ENST00000379274.6:c.1538+2166T>C	ENSP00000368576.3:n.1538+2166T>C
ENST00000498255.6:n.1769+2166T>C
ENST00000536612.3:c.1130+2166T>C	ENSP00000445114.2:n.1130+2166T>C
ENST00000626247.2:c.*627+2166T>C	ENSP00000486329.1:n.*627+2166T>C
ENST00000627777.2:c.1130+2166T>C	ENSP00000486838.1:n.1130+2166T>C
ENST00000628433.2:c.1130+2166T>C	ENSP00000485809.1:n.1130+2166T>C
NM_001204504.2:c.1538+2166T>C	NP_001191433.1:n.1538+2166T>C
NM_001204505.2:c.1130+2166T>C	NP_001191434.1:n.1130+2166T>C
NM_001204506.2:c.1130+2166T>C	NP_001191435.1:n.1130+2166T>C
NM_001297429.1:c.803+2166T>C	NP_001284358.1:n.803+2166T>C
NM_152910.5:c.1538+2166T>C	NP_690874.2:n.1538+2166T>C
NM_178009.4:c.1538+2166T>C	NP_821077.1:n.1538+2166T>C
NR_123714.1:n.1262+2166T>C
NR_123715.1:n.1875+2166T>C
NM_001204505.3:c.1130+2166T>C	NP_001191434.1:n.1130+2166T>C
NM_001204506.3:c.1130+2166T>C	NP_001191435.1:n.1130+2166T>C
NM_001297429.2:c.803+2166T>C	NP_001284358.1:n.803+2166T>C
NM_152910.6:c.1538+2166T>C	NP_690874.2:n.1538+2166T>C
NM_178009.5:c.1538+2166T>C MANE Select	NP_821077.1:n.1538+2166T>C
NR_123714.2:n.1246+2166T>C
NR_123715.2:n.1859+2166T>C
NM_001204504.3:c.1538+2166T>C	NP_001191433.1:n.1538+2166T>C