Canonical Allele Identifier: CA261256

Gene: DLD

Linked Data

• ClinVar Variation Id: 40186
• ClinVar RCV Id: RCV000033216
• dbSNP Id: rs397514649
• MyVariant Identifiers: chr7:g.107559516A>T (hg19) ; chr7:g.107919071A>T (hg38)
• PubMed: PMID:10448086 ; PMID:15712224 ; PMID:17404228

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107919071A>T , CM000669.2:g.107919071A>T	GRCh38
NC_000007.13:g.107559516A>T , CM000669.1:g.107559516A>T	GRCh37
NC_000007.12:g.107346752A>T	NCBI36
NG_008045.1:g.32931A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.1436A>T MANE Select	ENSP00000205402.3:p.Asp479Val
ENST00000205402.9:c.1436A>T	ENSP00000205402.3:p.Asp479Val
ENST00000415325.5:c.*1110A>T	ENSP00000402593.1:n.*1110A>T
ENST00000417551.5:c.1436A>T	ENSP00000390667.1:p.Asp479Val
ENST00000437604.6:c.1292A>T	ENSP00000387542.2:p.Asp431Val
ENST00000440410.5:c.1367A>T	ENSP00000417016.1:p.Asp456Val
NM_000108.4:c.1436A>T	NP_000099.2:p.Asp479Val
NM_001289750.1:c.1139A>T	NP_001276679.1:p.Asp380Val
NM_001289751.1:c.1367A>T	NP_001276680.1:p.Asp456Val
NM_001289752.1:c.1292A>T	NP_001276681.1:p.Asp431Val
NM_000108.5:c.1436A>T MANE Select	NP_000099.2:p.Asp479Val