Canonical Allele Identifier: CA368859455
Gene: DLD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107919048G>C , CM000669.2:g.107919048G>C GRCh38
NC_000007.13:g.107559493G>C , CM000669.1:g.107559493G>C GRCh37
NC_000007.12:g.107346729G>C NCBI36
NG_008045.1:g.32908G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000205402.10:c.1413G>C MANE Select ENSP00000205402.3:p.Leu471Phe
ENST00000205402.9:c.1413G>C ENSP00000205402.3:p.Leu471Phe
ENST00000415325.5:c.*1087G>C ENSP00000402593.1:n.*1087G>C
ENST00000417551.5:c.1413G>C ENSP00000390667.1:p.Leu471Phe
ENST00000437604.6:c.1269G>C ENSP00000387542.2:p.Leu423Phe
ENST00000440410.5:c.1344G>C ENSP00000417016.1:p.Leu448Phe
NM_000108.4:c.1413G>C NP_000099.2:p.Leu471Phe
NM_001289750.1:c.1116G>C NP_001276679.1:p.Leu372Phe
NM_001289751.1:c.1344G>C NP_001276680.1:p.Leu448Phe
NM_001289752.1:c.1269G>C NP_001276681.1:p.Leu423Phe
NM_000108.5:c.1413G>C MANE Select NP_000099.2:p.Leu471Phe