Canonical Allele Identifier: CA10622985

Gene: DLD

Linked Data

• ClinVar Variation Id: 358591
• ClinVar RCV Id: RCV000283475 ; RCV000340859 ; RCV000380454
• dbSNP Id: rs190655078
• gnomAD v2: 7-107561440-T-C
• gnomAD v3: 7-107920995-T-C
• gnomAD v4: 7-107920995-T-C
• MyVariant Identifiers: chr7:g.107561440T>C (hg19) ; chr7:g.107920995T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107920995T>C , CM000669.2:g.107920995T>C	GRCh38
NC_000007.13:g.107561440T>C , CM000669.1:g.107561440T>C	GRCh37
NC_000007.12:g.107348676T>C	NCBI36
NG_008045.1:g.34855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.*1736T>C MANE Select	ENSP00000205402.3:n.*1736T>C
ENST00000205402.9:c.*1736T>C	ENSP00000205402.3:n.*1736T>C
ENST00000417551.5:c.*124+1612T>C	ENSP00000390667.1:n.*124+1612T>C
NM_000108.4:c.*1736T>C	NP_000099.2:n.*1736T>C
NM_001289750.1:c.*1736T>C	NP_001276679.1:n.*1736T>C
NM_001289751.1:c.*1736T>C	NP_001276680.1:n.*1736T>C
NM_001289752.1:c.*1736T>C	NP_001276681.1:n.*1736T>C
NM_000108.5:c.*1736T>C MANE Select	NP_000099.2:n.*1736T>C