Canonical Allele Identifier: CA312466

Gene: DLD

Linked Data

• ClinVar Variation Id: 203681
• ClinVar RCV Id: RCV000676803 ; RCV000653827 ; RCV001161965 ; RCV001161966 ; RCV004020251 ; RCV004545876
• dbSNP Id: rs145670503
• ExAC: 7:107556054 G / A
• gnomAD v2: 7-107556054-G-A
• gnomAD v3: 7-107915609-G-A
• gnomAD v4: 7-107915609-G-A
• MyVariant Identifiers: chr7:g.107556054G>A (hg19) ; chr7:g.107915609G>A (hg38)

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