Canonical Allele Identifier: CA312474

Gene: DLD

Linked Data

• ClinVar Variation Id: 203685
• ClinVar RCV Id: RCV000185861 ; RCV001277173
• dbSNP Id: rs757275923
• ExAC: 7:107559462 G / A
• gnomAD v2: 7-107559462-G-A
• gnomAD v3: 7-107919017-G-A
• gnomAD v4: 7-107919017-G-A
• MyVariant Identifiers: chr7:g.107559462G>A (hg19) ; chr7:g.107919017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107919017G>A , CM000669.2:g.107919017G>A	GRCh38
NC_000007.13:g.107559462G>A , CM000669.1:g.107559462G>A	GRCh37
NC_000007.12:g.107346698G>A	NCBI36
NG_008045.1:g.32877G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.1382G>A MANE Select	ENSP00000205402.3:p.Gly461Glu
ENST00000205402.9:c.1382G>A	ENSP00000205402.3:p.Gly461Glu
ENST00000415325.5:c.*1056G>A	ENSP00000402593.1:n.*1056G>A
ENST00000417551.5:c.1382G>A	ENSP00000390667.1:p.Gly461Glu
ENST00000437604.6:c.1238G>A	ENSP00000387542.2:p.Gly413Glu
ENST00000440410.5:c.1313G>A	ENSP00000417016.1:p.Gly438Glu
NM_000108.4:c.1382G>A	NP_000099.2:p.Gly461Glu
NM_001289750.1:c.1085G>A	NP_001276679.1:p.Gly362Glu
NM_001289751.1:c.1313G>A	NP_001276680.1:p.Gly438Glu
NM_001289752.1:c.1238G>A	NP_001276681.1:p.Gly413Glu
NM_000108.5:c.1382G>A MANE Select	NP_000099.2:p.Gly461Glu