Canonical Allele Identifier: CA368859716
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 557409
ClinVar RCV Id: RCV000673550
dbSNP Id: rs1554400769

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107919257T>C , CM000669.2:g.107919257T>C GRCh38
NC_000007.13:g.107559702T>C , CM000669.1:g.107559702T>C GRCh37
NC_000007.12:g.107346938T>C NCBI36
NG_008045.1:g.33117T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.1528T>C MANE Select ENSP00000205402.3:p.Ter510Arg
ENST00000205402.9:c.1528T>C ENSP00000205402.3:p.Ter510Arg
ENST00000415325.5:c.*1202T>C ENSP00000402593.1:n.*1202T>C
ENST00000417551.5:c.1528T>C ENSP00000390667.1:p.Ter510Arg
ENST00000437604.6:c.1384T>C ENSP00000387542.2:p.Ter462Arg
ENST00000440410.5:c.1459T>C ENSP00000417016.1:p.Ter487Arg
NM_000108.4:c.1528T>C NP_000099.2:p.Ter510Arg
NM_001289750.1:c.1231T>C NP_001276679.1:p.Ter411Arg
NM_001289751.1:c.1459T>C NP_001276680.1:p.Ter487Arg
NM_001289752.1:c.1384T>C NP_001276681.1:p.Ter462Arg
NM_000108.5:c.1528T>C MANE Select NP_000099.2:p.Ter510Arg