Canonical Allele Identifier: CA256135
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 11969
ClinVar RCV Id: RCV000012747
dbSNP Id: rs121964991

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107917404T>C , CM000669.2:g.107917404T>C GRCh38
NC_000007.13:g.107557849T>C , CM000669.1:g.107557849T>C GRCh37
NC_000007.12:g.107345085T>C NCBI36
NG_008045.1:g.31264T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000205402.10:c.1178T>C MANE Select ENSP00000205402.3:p.Ile393Thr
ENST00000205402.9:c.1178T>C ENSP00000205402.3:p.Ile393Thr
ENST00000415325.5:c.*852T>C ENSP00000402593.1:n.*852T>C
ENST00000417551.5:c.1178T>C ENSP00000390667.1:p.Ile393Thr
ENST00000437604.6:c.1034T>C ENSP00000387542.2:p.Ile345Thr
ENST00000440410.5:c.1109T>C ENSP00000417016.1:p.Ile370Thr
NM_000108.4:c.1178T>C NP_000099.2:p.Ile393Thr
NM_001289750.1:c.881T>C NP_001276679.1:p.Ile294Thr
NM_001289751.1:c.1109T>C NP_001276680.1:p.Ile370Thr
NM_001289752.1:c.1034T>C NP_001276681.1:p.Ile345Thr
NM_000108.5:c.1178T>C MANE Select NP_000099.2:p.Ile393Thr