Canonical Allele Identifier: CA368858470
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 1070701
ClinVar RCV Id: RCV001382949
dbSNP Id: rs757087726

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107917408C>G , CM000669.2:g.107917408C>G GRCh38
NC_000007.13:g.107557853C>G , CM000669.1:g.107557853C>G GRCh37
NC_000007.12:g.107345089C>G NCBI36
NG_008045.1:g.31268C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000205402.10:c.1182C>G MANE Select ENSP00000205402.3:p.Tyr394Ter
ENST00000205402.9:c.1182C>G ENSP00000205402.3:p.Tyr394Ter
ENST00000415325.5:c.*856C>G ENSP00000402593.1:n.*856C>G
ENST00000417551.5:c.1182C>G ENSP00000390667.1:p.Tyr394Ter
ENST00000437604.6:c.1038C>G ENSP00000387542.2:p.Tyr346Ter
ENST00000440410.5:c.1113C>G ENSP00000417016.1:p.Tyr371Ter
NM_000108.4:c.1182C>G NP_000099.2:p.Tyr394Ter
NM_001289750.1:c.885C>G NP_001276679.1:p.Tyr295Ter
NM_001289751.1:c.1113C>G NP_001276680.1:p.Tyr371Ter
NM_001289752.1:c.1038C>G NP_001276681.1:p.Tyr346Ter
NM_000108.5:c.1182C>G MANE Select NP_000099.2:p.Tyr394Ter