Canonical Allele Identifier: CA4434711

Gene: DLD

Linked Data

• ClinVar Variation Id: 724857
• ClinVar RCV Id: RCV000898842 ; RCV001549379 ; RCV003950523
• dbSNP Id: rs760982359
• ExAC: 7:107559532 T / C
• gnomAD v2: 7-107559532-T-C
• gnomAD v3: 7-107919087-T-C
• gnomAD v4: 7-107919087-T-C
• MyVariant Identifiers: chr7:g.107559532T>C (hg19) ; chr7:g.107919087T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107919087T>C , CM000669.2:g.107919087T>C	GRCh38
NC_000007.13:g.107559532T>C , CM000669.1:g.107559532T>C	GRCh37
NC_000007.12:g.107346768T>C	NCBI36
NG_008045.1:g.32947T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.1452T>C MANE Select	ENSP00000205402.3:p.Cys484=
ENST00000205402.9:c.1452T>C	ENSP00000205402.3:p.Cys484=
ENST00000415325.5:c.*1126T>C	ENSP00000402593.1:n.*1126T>C
ENST00000417551.5:c.1452T>C	ENSP00000390667.1:p.Cys484=
ENST00000437604.6:c.1308T>C	ENSP00000387542.2:p.Cys436=
ENST00000440410.5:c.1383T>C	ENSP00000417016.1:p.Cys461=
NM_000108.4:c.1452T>C	NP_000099.2:p.Cys484=
NM_001289750.1:c.1155T>C	NP_001276679.1:p.Cys385=
NM_001289751.1:c.1383T>C	NP_001276680.1:p.Cys461=
NM_001289752.1:c.1308T>C	NP_001276681.1:p.Cys436=
NM_000108.5:c.1452T>C MANE Select	NP_000099.2:p.Cys484=