Canonical Allele Identifier: CA10627980

Gene: DLD

Linked Data

• ClinVar Variation Id: 358578
• ClinVar RCV Id: RCV000296036 ; RCV000348657 ; RCV000401807
• dbSNP Id: rs111619940
• gnomAD v2: 7-107560174-G-A
• gnomAD v3: 7-107919729-G-A
• gnomAD v4: 7-107919729-G-A
• MyVariant Identifiers: chr7:g.107560174G>A (hg19) ; chr7:g.107919729G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107919729G>A , CM000669.2:g.107919729G>A	GRCh38
NC_000007.13:g.107560174G>A , CM000669.1:g.107560174G>A	GRCh37
NC_000007.12:g.107347410G>A	NCBI36
NG_008045.1:g.33589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.*470G>A MANE Select	ENSP00000205402.3:n.*470G>A
ENST00000205402.9:c.*470G>A	ENSP00000205402.3:n.*470G>A
ENST00000417551.5:c.*124+346G>A	ENSP00000390667.1:n.*124+346G>A
NM_000108.4:c.*470G>A	NP_000099.2:n.*470G>A
NM_001289750.1:c.*470G>A	NP_001276679.1:n.*470G>A
NM_001289751.1:c.*470G>A	NP_001276680.1:n.*470G>A
NM_001289752.1:c.*470G>A	NP_001276681.1:n.*470G>A
NM_000108.5:c.*470G>A MANE Select	NP_000099.2:n.*470G>A