Canonical Allele Identifier: CA4434732

Gene: DLD

Linked Data

• ClinVar Variation Id: 967330
• ClinVar RCV Id: RCV001242217 ; RCV002564020
• dbSNP Id: rs564889609
• ExAC: 7:107559666 A / C
• gnomAD v2: 7-107559666-A-C
• gnomAD v3: 7-107919221-A-C
• gnomAD v4: 7-107919221-A-C
• MyVariant Identifiers: chr7:g.107559666A>C (hg19) ; chr7:g.107919221A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107919221A>C , CM000669.2:g.107919221A>C	GRCh38
NC_000007.13:g.107559666A>C , CM000669.1:g.107559666A>C	GRCh37
NC_000007.12:g.107346902A>C	NCBI36
NG_008045.1:g.33081A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000205402.10:c.1492A>C MANE Select	ENSP00000205402.3:p.Asn498His
ENST00000205402.9:c.1492A>C	ENSP00000205402.3:p.Asn498His
ENST00000415325.5:c.*1166A>C	ENSP00000402593.1:n.*1166A>C
ENST00000417551.5:c.1492A>C	ENSP00000390667.1:p.Asn498His
ENST00000437604.6:c.1348A>C	ENSP00000387542.2:p.Asn450His
ENST00000440410.5:c.1423A>C	ENSP00000417016.1:p.Asn475His
NM_000108.4:c.1492A>C	NP_000099.2:p.Asn498His
NM_001289750.1:c.1195A>C	NP_001276679.1:p.Asn399His
NM_001289751.1:c.1423A>C	NP_001276680.1:p.Asn475His
NM_001289752.1:c.1348A>C	NP_001276681.1:p.Asn450His
NM_000108.5:c.1492A>C MANE Select	NP_000099.2:p.Asn498His