Canonical Allele Identifier: CA387973201

Gene: DGKH

Linked Data

• MyVariant Identifiers: chr13:g.42803266A>G (hg19) ; chr13:g.42229130A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42229130A>G , CM000675.2:g.42229130A>G	GRCh38
NC_000013.10:g.42803266A>G , CM000675.1:g.42803266A>G	GRCh37
NC_000013.9:g.41701266A>G	NCBI36
NG_029191.2:g.194095A>G
NG_029191.3:g.194095A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000337343.9:c.3605A>G MANE Select	ENSP00000337572.4:p.Lys1202Arg
ENST00000261491.9:c.3474A>G	ENSP00000261491.4:p.Glu1158=
ENST00000337343.8:c.3605A>G	ENSP00000337572.4:p.Lys1202Arg
ENST00000379274.6:c.3474A>G	ENSP00000368576.3:p.Glu1158=
ENST00000498255.6:n.3900A>G
ENST00000536612.3:c.3245A>G	ENSP00000445114.2:p.Lys1082Arg
ENST00000626247.2:c.*2563A>G	ENSP00000486329.1:n.*2563A>G
ENST00000627777.2:c.*212A>G	ENSP00000486838.1:n.*212A>G
ENST00000628433.2:c.3197A>G	ENSP00000485809.1:p.Lys1066Arg
NM_001204504.2:c.3474A>G	NP_001191433.1:p.Glu1158=
NM_001204505.2:c.3245A>G	NP_001191434.1:p.Lys1082Arg
NM_001204506.2:c.3197A>G	NP_001191435.1:p.Lys1066Arg
NM_001297429.1:c.2739A>G	NP_001284358.1:p.Glu913=
NM_152910.5:c.3474A>G	NP_690874.2:p.Glu1158=
NM_178009.4:c.3605A>G	NP_821077.1:p.Lys1202Arg
NR_123714.1:n.3431A>G
NR_123715.1:n.4006A>G
NM_001204505.3:c.3245A>G	NP_001191434.1:p.Lys1082Arg
NM_001204506.3:c.3197A>G	NP_001191435.1:p.Lys1066Arg
NM_001297429.2:c.2739A>G	NP_001284358.1:p.Glu913=
NM_152910.6:c.3474A>G	NP_690874.2:p.Glu1158=
NM_178009.5:c.3605A>G MANE Select	NP_821077.1:p.Lys1202Arg
NR_123714.2:n.3415A>G
NR_123715.2:n.3990A>G
NM_001204504.3:c.3474A>G	NP_001191433.1:p.Glu1158=