Canonical Allele Identifier: CA368858253

Gene: DLD

Linked Data

• ClinVar Variation Id: 984093
• ClinVar RCV Id: RCV001264098
• dbSNP Id: rs2032293586
• MyVariant Identifiers: chr7:g.107557790T>A (hg19) ; chr7:g.107917345T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107917345T>A , CM000669.2:g.107917345T>A	GRCh38
NC_000007.13:g.107557790T>A , CM000669.1:g.107557790T>A	GRCh37
NC_000007.12:g.107345026T>A	NCBI36
NG_008045.1:g.31205T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.1119T>A MANE Select	ENSP00000205402.3:p.Cys373Ter
ENST00000205402.9:c.1119T>A	ENSP00000205402.3:p.Cys373Ter
ENST00000415325.5:c.*793T>A	ENSP00000402593.1:n.*793T>A
ENST00000417551.5:c.1119T>A	ENSP00000390667.1:p.Cys373Ter
ENST00000437604.6:c.975T>A	ENSP00000387542.2:p.Cys325Ter
ENST00000440410.5:c.1050T>A	ENSP00000417016.1:p.Cys350Ter
NM_000108.4:c.1119T>A	NP_000099.2:p.Cys373Ter
NM_001289750.1:c.822T>A	NP_001276679.1:p.Cys274Ter
NM_001289751.1:c.1050T>A	NP_001276680.1:p.Cys350Ter
NM_001289752.1:c.975T>A	NP_001276681.1:p.Cys325Ter
NM_000108.5:c.1119T>A MANE Select	NP_000099.2:p.Cys373Ter