Canonical Allele Identifier: CA368856721
Gene: DLD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107915512G>C , CM000669.2:g.107915512G>C GRCh38
NC_000007.13:g.107555957G>C , CM000669.1:g.107555957G>C GRCh37
NC_000007.12:g.107343193G>C NCBI36
NG_008045.1:g.29372G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.691G>C MANE Select ENSP00000205402.3:p.Val231Leu
ENST00000205402.9:c.691G>C ENSP00000205402.3:p.Val231Leu
ENST00000415325.5:c.*365G>C ENSP00000402593.1:n.*365G>C
ENST00000417551.5:c.691G>C ENSP00000390667.1:p.Val231Leu
ENST00000437604.6:c.547G>C ENSP00000387542.2:p.Val183Leu
ENST00000440410.5:c.622G>C ENSP00000417016.1:p.Val208Leu
ENST00000451081.5:c.*434G>C ENSP00000388077.1:n.*434G>C
NM_000108.4:c.691G>C NP_000099.2:p.Val231Leu
NM_001289750.1:c.394G>C NP_001276679.1:p.Val132Leu
NM_001289751.1:c.622G>C NP_001276680.1:p.Val208Leu
NM_001289752.1:c.547G>C NP_001276681.1:p.Val183Leu
NM_000108.5:c.691G>C MANE Select NP_000099.2:p.Val231Leu