Canonical Allele Identifier: CA261258

Gene: DLD

Linked Data

• ClinVar Variation Id: 40187
• ClinVar RCV Id: RCV000033217
• dbSNP Id: rs397514650
• MyVariant Identifiers: chr7:g.107559524A>G (hg19) ; chr7:g.107919079A>G (hg38)
• PubMed: PMID:1640293 ; PMID:15712224

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107919079A>G , CM000669.2:g.107919079A>G	GRCh38
NC_000007.13:g.107559524A>G , CM000669.1:g.107559524A>G	GRCh37
NC_000007.12:g.107346760A>G	NCBI36
NG_008045.1:g.32939A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000205402.10:c.1444A>G MANE Select	ENSP00000205402.3:p.Arg482Gly
ENST00000205402.9:c.1444A>G	ENSP00000205402.3:p.Arg482Gly
ENST00000415325.5:c.*1118A>G	ENSP00000402593.1:n.*1118A>G
ENST00000417551.5:c.1444A>G	ENSP00000390667.1:p.Arg482Gly
ENST00000437604.6:c.1300A>G	ENSP00000387542.2:p.Arg434Gly
ENST00000440410.5:c.1375A>G	ENSP00000417016.1:p.Arg459Gly
NM_000108.4:c.1444A>G	NP_000099.2:p.Arg482Gly
NM_001289750.1:c.1147A>G	NP_001276679.1:p.Arg383Gly
NM_001289751.1:c.1375A>G	NP_001276680.1:p.Arg459Gly
NM_001289752.1:c.1300A>G	NP_001276681.1:p.Arg434Gly
NM_000108.5:c.1444A>G MANE Select	NP_000099.2:p.Arg482Gly