Canonical Allele Identifier: CA312466
Gene: DLD HGNC NCBI
COSMIC:
COSM244051 (not active)
COSM4166562 (not active)
MyVariant.info:
GRCh38 chr7:g.107915609G>A
GRCh37 chr7:g.107556054G>A
Revel Score:
ENST00000205402 (MANE Select) 0.505
ENST00000417551 0.505
ENST00000537148 0.505
ENST00000440410 0.505
ENST00000437604 0.505
ENST00000539590 0.505
gnomAD v2:
7:107556054 G / A
gnomAD v3:
7:107915609 G / A
gnomAD v4:
chr7-107915609-G-A
Joint Max Group AF 0.00177169 (AMR)
Genomes Max Group AF 0.00197611 (AMR)
Exomes Max Group AF 0.00155547 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107915609G>A , CM000669.2:g.107915609G>A GRCh38
NC_000007.13:g.107556054G>A , CM000669.1:g.107556054G>A GRCh37
NC_000007.12:g.107343290G>A NCBI36
NG_008045.1:g.29469G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.788G>A MANE Select ENSP00000205402.3:p.Arg263His
ENST00000205402.9:c.788G>A ENSP00000205402.3:p.Arg263His
ENST00000415325.5:c.*462G>A ENSP00000402593.1:n.*462G>A
ENST00000417551.5:c.788G>A ENSP00000390667.1:p.Arg263His
ENST00000437604.6:c.644G>A ENSP00000387542.2:p.Arg215His
ENST00000440410.5:c.719G>A ENSP00000417016.1:p.Arg240His
NM_000108.4:c.788G>A NP_000099.2:p.Arg263His
NM_001289750.1:c.491G>A NP_001276679.1:p.Arg164His
NM_001289751.1:c.719G>A NP_001276680.1:p.Arg240His
NM_001289752.1:c.644G>A NP_001276681.1:p.Arg215His
NM_000108.5:c.788G>A MANE Select NP_000099.2:p.Arg263His
Search 100 bp 5'
Search 100 bp 3'