Canonical Allele Identifier: CA368857309

Gene: DLD

Linked Data

• dbSNP Id: rs1196363939
• gnomAD v2: 7-107556105-G-A
• gnomAD v4: 7-107915660-G-A
• MyVariant Identifiers: chr7:g.107556105G>A (hg19) ; chr7:g.107915660G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107915660G>A , CM000669.2:g.107915660G>A	GRCh38
NC_000007.13:g.107556105G>A , CM000669.1:g.107556105G>A	GRCh37
NC_000007.12:g.107343341G>A	NCBI36
NG_008045.1:g.29520G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.839G>A MANE Select	ENSP00000205402.3:p.Gly280Asp
ENST00000205402.9:c.839G>A	ENSP00000205402.3:p.Gly280Asp
ENST00000415325.5:c.*513G>A	ENSP00000402593.1:n.*513G>A
ENST00000417551.5:c.839G>A	ENSP00000390667.1:p.Gly280Asp
ENST00000437604.6:c.695G>A	ENSP00000387542.2:p.Gly232Asp
ENST00000440410.5:c.770G>A	ENSP00000417016.1:p.Gly257Asp
NM_000108.4:c.839G>A	NP_000099.2:p.Gly280Asp
NM_001289750.1:c.542G>A	NP_001276679.1:p.Gly181Asp
NM_001289751.1:c.770G>A	NP_001276680.1:p.Gly257Asp
NM_001289752.1:c.695G>A	NP_001276681.1:p.Gly232Asp
NM_000108.5:c.839G>A MANE Select	NP_000099.2:p.Gly280Asp