Canonical Allele Identifier: CA368859527
Gene: DLD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107919082G>C , CM000669.2:g.107919082G>C GRCh38
NC_000007.13:g.107559527G>C , CM000669.1:g.107559527G>C GRCh37
NC_000007.12:g.107346763G>C NCBI36
NG_008045.1:g.32942G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000205402.10:c.1447G>C MANE Select ENSP00000205402.3:p.Val483Leu
ENST00000205402.9:c.1447G>C ENSP00000205402.3:p.Val483Leu
ENST00000415325.5:c.*1121G>C ENSP00000402593.1:n.*1121G>C
ENST00000417551.5:c.1447G>C ENSP00000390667.1:p.Val483Leu
ENST00000437604.6:c.1303G>C ENSP00000387542.2:p.Val435Leu
ENST00000440410.5:c.1378G>C ENSP00000417016.1:p.Val460Leu
NM_000108.4:c.1447G>C NP_000099.2:p.Val483Leu
NM_001289750.1:c.1150G>C NP_001276679.1:p.Val384Leu
NM_001289751.1:c.1378G>C NP_001276680.1:p.Val460Leu
NM_001289752.1:c.1303G>C NP_001276681.1:p.Val435Leu
NM_000108.5:c.1447G>C MANE Select NP_000099.2:p.Val483Leu