Canonical Allele Identifier: CA368857183

Gene: DLD

Linked Data

• ClinVar Variation Id: 2440801
• ClinVar RCV Id: RCV003146102
• gnomAD v4: 7-107915624-A-G
• MyVariant Identifiers: chr7:g.107556069A>G (hg19) ; chr7:g.107915624A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107915624A>G , CM000669.2:g.107915624A>G	GRCh38
NC_000007.13:g.107556069A>G , CM000669.1:g.107556069A>G	GRCh37
NC_000007.12:g.107343305A>G	NCBI36
NG_008045.1:g.29484A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.803A>G MANE Select	ENSP00000205402.3:p.Gln268Arg
ENST00000205402.9:c.803A>G	ENSP00000205402.3:p.Gln268Arg
ENST00000415325.5:c.*477A>G	ENSP00000402593.1:n.*477A>G
ENST00000417551.5:c.803A>G	ENSP00000390667.1:p.Gln268Arg
ENST00000437604.6:c.659A>G	ENSP00000387542.2:p.Gln220Arg
ENST00000440410.5:c.734A>G	ENSP00000417016.1:p.Gln245Arg
NM_000108.4:c.803A>G	NP_000099.2:p.Gln268Arg
NM_001289750.1:c.506A>G	NP_001276679.1:p.Gln169Arg
NM_001289751.1:c.734A>G	NP_001276680.1:p.Gln245Arg
NM_001289752.1:c.659A>G	NP_001276681.1:p.Gln220Arg
NM_000108.5:c.803A>G MANE Select	NP_000099.2:p.Gln268Arg