Canonical Allele Identifier: CA457109483
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 2749687
ClinVar RCV Id: RCV003511686
MyVariant Identifiers: chr7:g.107557829C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107917384C>T , CM000669.2:g.107917384C>T GRCh38
NC_000007.13:g.107557829C>T , CM000669.1:g.107557829C>T GRCh37
NC_000007.12:g.107345065C>T NCBI36
NG_008045.1:g.31244C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.1158C>T MANE Select ENSP00000205402.3:p.Tyr386=
ENST00000205402.9:c.1158C>T ENSP00000205402.3:p.Tyr386=
ENST00000415325.5:c.*832C>T ENSP00000402593.1:n.*832C>T
ENST00000417551.5:c.1158C>T ENSP00000390667.1:p.Tyr386=
ENST00000437604.6:c.1014C>T ENSP00000387542.2:p.Tyr338=
ENST00000440410.5:c.1089C>T ENSP00000417016.1:p.Tyr363=
NM_000108.4:c.1158C>T NP_000099.2:p.Tyr386=
NM_001289750.1:c.861C>T NP_001276679.1:p.Tyr287=
NM_001289751.1:c.1089C>T NP_001276680.1:p.Tyr363=
NM_001289752.1:c.1014C>T NP_001276681.1:p.Tyr338=
NM_000108.5:c.1158C>T MANE Select NP_000099.2:p.Tyr386=