Canonical Allele Identifier: CA368857149
Gene: DLD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107915614C>G , CM000669.2:g.107915614C>G GRCh38
NC_000007.13:g.107556059C>G , CM000669.1:g.107556059C>G GRCh37
NC_000007.12:g.107343295C>G NCBI36
NG_008045.1:g.29474C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.793C>G MANE Select ENSP00000205402.3:p.Leu265Val
ENST00000205402.9:c.793C>G ENSP00000205402.3:p.Leu265Val
ENST00000415325.5:c.*467C>G ENSP00000402593.1:n.*467C>G
ENST00000417551.5:c.793C>G ENSP00000390667.1:p.Leu265Val
ENST00000437604.6:c.649C>G ENSP00000387542.2:p.Leu217Val
ENST00000440410.5:c.724C>G ENSP00000417016.1:p.Leu242Val
NM_000108.4:c.793C>G NP_000099.2:p.Leu265Val
NM_001289750.1:c.496C>G NP_001276679.1:p.Leu166Val
NM_001289751.1:c.724C>G NP_001276680.1:p.Leu242Val
NM_001289752.1:c.649C>G NP_001276681.1:p.Leu217Val
NM_000108.5:c.793C>G MANE Select NP_000099.2:p.Leu265Val