Canonical Allele Identifier: CA457109504
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 1605590
ClinVar RCV Id: RCV002149827
dbSNP Id: rs2116272074
MyVariant Identifiers: chr7:g.107557862T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107917417T>C , CM000669.2:g.107917417T>C GRCh38
NC_000007.13:g.107557862T>C , CM000669.1:g.107557862T>C GRCh37
NC_000007.12:g.107345098T>C NCBI36
NG_008045.1:g.31277T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000205402.10:c.1191T>C MANE Select ENSP00000205402.3:p.Pro397=
ENST00000205402.9:c.1191T>C ENSP00000205402.3:p.Pro397=
ENST00000415325.5:c.*865T>C ENSP00000402593.1:n.*865T>C
ENST00000417551.5:c.1191T>C ENSP00000390667.1:p.Pro397=
ENST00000437604.6:c.1047T>C ENSP00000387542.2:p.Pro349=
ENST00000440410.5:c.1122T>C ENSP00000417016.1:p.Pro374=
NM_000108.4:c.1191T>C NP_000099.2:p.Pro397=
NM_001289750.1:c.894T>C NP_001276679.1:p.Pro298=
NM_001289751.1:c.1122T>C NP_001276680.1:p.Pro374=
NM_001289752.1:c.1047T>C NP_001276681.1:p.Pro349=
NM_000108.5:c.1191T>C MANE Select NP_000099.2:p.Pro397=