Canonical Allele Identifier: CA4434735

Gene: DLD

Linked Data

• ClinVar Variation Id: 358572
• ClinVar RCV Id: RCV000282664 ; RCV000337641 ; RCV000376969
• dbSNP Id: rs766286119
• ExAC: 7:107559677 G / A
• gnomAD v2: 7-107559677-G-A
• gnomAD v3: 7-107919232-G-A
• gnomAD v4: 7-107919232-G-A
• MyVariant Identifiers: chr7:g.107559677G>A (hg19) ; chr7:g.107919232G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107919232G>A , CM000669.2:g.107919232G>A	GRCh38
NC_000007.13:g.107559677G>A , CM000669.1:g.107559677G>A	GRCh37
NC_000007.12:g.107346913G>A	NCBI36
NG_008045.1:g.33092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.1503G>A MANE Select	ENSP00000205402.3:p.Ala501=
ENST00000205402.9:c.1503G>A	ENSP00000205402.3:p.Ala501=
ENST00000415325.5:c.*1177G>A	ENSP00000402593.1:n.*1177G>A
ENST00000417551.5:c.1503G>A	ENSP00000390667.1:p.Ala501=
ENST00000437604.6:c.1359G>A	ENSP00000387542.2:p.Ala453=
ENST00000440410.5:c.1434G>A	ENSP00000417016.1:p.Ala478=
NM_000108.4:c.1503G>A	NP_000099.2:p.Ala501=
NM_001289750.1:c.1206G>A	NP_001276679.1:p.Ala402=
NM_001289751.1:c.1434G>A	NP_001276680.1:p.Ala478=
NM_001289752.1:c.1359G>A	NP_001276681.1:p.Ala453=
NM_000108.5:c.1503G>A MANE Select	NP_000099.2:p.Ala501=