Canonical Allele Identifier: CA368857767
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 2744285
ClinVar RCV Id: RCV003511553

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107916906G>T , CM000669.2:g.107916906G>T GRCh38
NC_000007.13:g.107557351G>T , CM000669.1:g.107557351G>T GRCh37
NC_000007.12:g.107344587G>T NCBI36
NG_008045.1:g.30766G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.988G>T MANE Select ENSP00000205402.3:p.Glu330Ter
ENST00000205402.9:c.988G>T ENSP00000205402.3:p.Glu330Ter
ENST00000415325.5:c.*662G>T ENSP00000402593.1:n.*662G>T
ENST00000417551.5:c.988G>T ENSP00000390667.1:p.Glu330Ter
ENST00000437604.6:c.844G>T ENSP00000387542.2:p.Glu282Ter
ENST00000440410.5:c.919G>T ENSP00000417016.1:p.Glu307Ter
NM_000108.4:c.988G>T NP_000099.2:p.Glu330Ter
NM_001289750.1:c.691G>T NP_001276679.1:p.Glu231Ter
NM_001289751.1:c.919G>T NP_001276680.1:p.Glu307Ter
NM_001289752.1:c.844G>T NP_001276681.1:p.Glu282Ter
NM_000108.5:c.988G>T MANE Select NP_000099.2:p.Glu330Ter