Canonical Allele Identifier: CA457109213

Gene: DLD

Linked Data

• ClinVar Variation Id: 1535739
• ClinVar RCV Id: RCV002077918
• dbSNP Id: rs1241426016
• MyVariant Identifiers: chr7:g.107557407A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107916962A>C , CM000669.2:g.107916962A>C	GRCh38
NC_000007.13:g.107557407A>C , CM000669.1:g.107557407A>C	GRCh37
NC_000007.12:g.107344643A>C	NCBI36
NG_008045.1:g.30822A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.1044A>C MANE Select	ENSP00000205402.3:p.Pro348=
ENST00000205402.9:c.1044A>C	ENSP00000205402.3:p.Pro348=
ENST00000415325.5:c.*718A>C	ENSP00000402593.1:n.*718A>C
ENST00000417551.5:c.1044A>C	ENSP00000390667.1:p.Pro348=
ENST00000437604.6:c.900A>C	ENSP00000387542.2:p.Pro300=
ENST00000440410.5:c.975A>C	ENSP00000417016.1:p.Pro325=
NM_000108.4:c.1044A>C	NP_000099.2:p.Pro348=
NM_001289750.1:c.747A>C	NP_001276679.1:p.Pro249=
NM_001289751.1:c.975A>C	NP_001276680.1:p.Pro325=
NM_001289752.1:c.900A>C	NP_001276681.1:p.Pro300=
NM_000108.5:c.1044A>C MANE Select	NP_000099.2:p.Pro348=