Canonical Allele Identifier: CA368857936
Gene: DLD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107916957A>C , CM000669.2:g.107916957A>C GRCh38
NC_000007.13:g.107557402A>C , CM000669.1:g.107557402A>C GRCh37
NC_000007.12:g.107344638A>C NCBI36
NG_008045.1:g.30817A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.1039A>C MANE Select ENSP00000205402.3:p.Ile347Leu
ENST00000205402.9:c.1039A>C ENSP00000205402.3:p.Ile347Leu
ENST00000415325.5:c.*713A>C ENSP00000402593.1:n.*713A>C
ENST00000417551.5:c.1039A>C ENSP00000390667.1:p.Ile347Leu
ENST00000437604.6:c.895A>C ENSP00000387542.2:p.Ile299Leu
ENST00000440410.5:c.970A>C ENSP00000417016.1:p.Ile324Leu
NM_000108.4:c.1039A>C NP_000099.2:p.Ile347Leu
NM_001289750.1:c.742A>C NP_001276679.1:p.Ile248Leu
NM_001289751.1:c.970A>C NP_001276680.1:p.Ile324Leu
NM_001289752.1:c.895A>C NP_001276681.1:p.Ile299Leu
NM_000108.5:c.1039A>C MANE Select NP_000099.2:p.Ile347Leu