Canonical Allele Identifier: CA368858384
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 2069354
ClinVar RCV Id: RCV002962102

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107917384C>G , CM000669.2:g.107917384C>G GRCh38
NC_000007.13:g.107557829C>G , CM000669.1:g.107557829C>G GRCh37
NC_000007.12:g.107345065C>G NCBI36
NG_008045.1:g.31244C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.1158C>G MANE Select ENSP00000205402.3:p.Tyr386Ter
ENST00000205402.9:c.1158C>G ENSP00000205402.3:p.Tyr386Ter
ENST00000415325.5:c.*832C>G ENSP00000402593.1:n.*832C>G
ENST00000417551.5:c.1158C>G ENSP00000390667.1:p.Tyr386Ter
ENST00000437604.6:c.1014C>G ENSP00000387542.2:p.Tyr338Ter
ENST00000440410.5:c.1089C>G ENSP00000417016.1:p.Tyr363Ter
NM_000108.4:c.1158C>G NP_000099.2:p.Tyr386Ter
NM_001289750.1:c.861C>G NP_001276679.1:p.Tyr287Ter
NM_001289751.1:c.1089C>G NP_001276680.1:p.Tyr363Ter
NM_001289752.1:c.1014C>G NP_001276681.1:p.Tyr338Ter
NM_000108.5:c.1158C>G MANE Select NP_000099.2:p.Tyr386Ter