Canonical Allele Identifier: CA312462
Gene: DLD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107915543C>T , CM000669.2:g.107915543C>T GRCh38
NC_000007.13:g.107555988C>T , CM000669.1:g.107555988C>T GRCh37
NC_000007.12:g.107343224C>T NCBI36
NG_008045.1:g.29403C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.722C>T MANE Select ENSP00000205402.3:p.Ala241Val
ENST00000205402.9:c.722C>T ENSP00000205402.3:p.Ala241Val
ENST00000415325.5:c.*396C>T ENSP00000402593.1:n.*396C>T
ENST00000417551.5:c.722C>T ENSP00000390667.1:p.Ala241Val
ENST00000437604.6:c.578C>T ENSP00000387542.2:p.Ala193Val
ENST00000440410.5:c.653C>T ENSP00000417016.1:p.Ala218Val
ENST00000451081.5:c.*465C>T ENSP00000388077.1:n.*465C>T
NM_000108.4:c.722C>T NP_000099.2:p.Ala241Val
NM_001289750.1:c.425C>T NP_001276679.1:p.Ala142Val
NM_001289751.1:c.653C>T NP_001276680.1:p.Ala218Val
NM_001289752.1:c.578C>T NP_001276681.1:p.Ala193Val
NM_000108.5:c.722C>T MANE Select NP_000099.2:p.Ala241Val