Canonical Allele Identifier: CA698146363

Gene: DGKH

Linked Data

• dbSNP Id: rs1253297672
• gnomAD v3: 13-42079253-A-T
• gnomAD v4: 13-42079253-A-T
• MyVariant Identifiers: chr13:g.42653389A>T (hg19) ; chr13:g.42079253A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42079253A>T , CM000675.2:g.42079253A>T	GRCh38
NC_000013.10:g.42653389A>T , CM000675.1:g.42653389A>T	GRCh37
NC_000013.9:g.41551389A>T	NCBI36
NG_029191.2:g.44218A>T
NG_029191.3:g.44218A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337343.9:c.192+30288A>T MANE Select	ENSP00000337572.4:n.192+30288A>T
ENST00000261491.9:c.192+30288A>T	ENSP00000261491.4:n.192+30288A>T
ENST00000337343.8:c.192+30288A>T	ENSP00000337572.4:n.192+30288A>T
ENST00000379274.6:c.192+30288A>T	ENSP00000368576.3:n.192+30288A>T
NM_001204504.2:c.192+30288A>T	NP_001191433.1:n.192+30288A>T
NM_152910.5:c.192+30288A>T	NP_690874.2:n.192+30288A>T
NM_178009.4:c.192+30288A>T	NP_821077.1:n.192+30288A>T
NM_152910.6:c.192+30288A>T	NP_690874.2:n.192+30288A>T
NM_178009.5:c.192+30288A>T MANE Select	NP_821077.1:n.192+30288A>T
NM_001204504.3:c.192+30288A>T	NP_001191433.1:n.192+30288A>T