Canonical Allele Identifier: CA4434611

Gene: DLD

Linked Data

• ClinVar Variation Id: 1156164
• ClinVar RCV Id: RCV001498710
• dbSNP Id: rs764979410
• ExAC: 7:107557377 A / G
• gnomAD v2: 7-107557377-A-G
• MyVariant Identifiers: chr7:g.107557377A>G (hg19) ; chr7:g.107916932A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107916932A>G , CM000669.2:g.107916932A>G	GRCh38
NC_000007.13:g.107557377A>G , CM000669.1:g.107557377A>G	GRCh37
NC_000007.12:g.107344613A>G	NCBI36
NG_008045.1:g.30792A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.1014A>G MANE Select	ENSP00000205402.3:p.Pro338=
ENST00000205402.9:c.1014A>G	ENSP00000205402.3:p.Pro338=
ENST00000415325.5:c.*688A>G	ENSP00000402593.1:n.*688A>G
ENST00000417551.5:c.1014A>G	ENSP00000390667.1:p.Pro338=
ENST00000437604.6:c.870A>G	ENSP00000387542.2:p.Pro290=
ENST00000440410.5:c.945A>G	ENSP00000417016.1:p.Pro315=
NM_000108.4:c.1014A>G	NP_000099.2:p.Pro338=
NM_001289750.1:c.717A>G	NP_001276679.1:p.Pro239=
NM_001289751.1:c.945A>G	NP_001276680.1:p.Pro315=
NM_001289752.1:c.870A>G	NP_001276681.1:p.Pro290=
NM_000108.5:c.1014A>G MANE Select	NP_000099.2:p.Pro338=