Canonical Allele Identifier: CA10625090

Gene: DLD

Linked Data

• ClinVar Variation Id: 358584
• ClinVar RCV Id: RCV000288290 ; RCV000328083 ; RCV000384986
• dbSNP Id: rs2158835
• gnomAD v2: 7-107560682-T-C
• gnomAD v3: 7-107920237-T-C
• gnomAD v4: 7-107920237-T-C
• MyVariant Identifiers: chr7:g.107560682T>C (hg19) ; chr7:g.107920237T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107920237T>C , CM000669.2:g.107920237T>C	GRCh38
NC_000007.13:g.107560682T>C , CM000669.1:g.107560682T>C	GRCh37
NC_000007.12:g.107347918T>C	NCBI36
NG_008045.1:g.34097T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000205402.10:c.*978T>C MANE Select	ENSP00000205402.3:n.*978T>C
ENST00000205402.9:c.*978T>C	ENSP00000205402.3:n.*978T>C
ENST00000417551.5:c.*124+854T>C	ENSP00000390667.1:n.*124+854T>C
NM_000108.4:c.*978T>C	NP_000099.2:n.*978T>C
NM_001289750.1:c.*978T>C	NP_001276679.1:n.*978T>C
NM_001289751.1:c.*978T>C	NP_001276680.1:n.*978T>C
NM_001289752.1:c.*978T>C	NP_001276681.1:n.*978T>C
NM_000108.5:c.*978T>C MANE Select	NP_000099.2:n.*978T>C