Canonical Allele Identifier: CA256132
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 11964
ClinVar RCV Id: RCV000012742
dbSNP Id: rs121964987

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107902340A>G , CM000669.2:g.107902340A>G GRCh38
NC_000007.13:g.107542785A>G , CM000669.1:g.107542785A>G GRCh37
NC_000007.12:g.107330021A>G NCBI36
NG_008045.1:g.16200A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000205402.10:c.214A>G MANE Select ENSP00000205402.3:p.Lys72Glu
ENST00000639772.1:c.214A>G ENSP00000492159.1:p.Lys72Glu
ENST00000205402.9:c.214A>G ENSP00000205402.3:p.Lys72Glu
ENST00000415325.5:c.119-1138A>G ENSP00000402593.1:n.119-1138A>G
ENST00000417551.5:c.214A>G ENSP00000390667.1:p.Lys72Glu
ENST00000437604.6:c.214A>G ENSP00000387542.2:p.Lys72Glu
ENST00000440410.5:c.198+523A>G ENSP00000417016.1:n.198+523A>G
ENST00000450038.5:c.214A>G ENSP00000409590.1:p.Lys72Glu
ENST00000451081.5:c.214A>G ENSP00000388077.1:p.Lys72Glu
ENST00000453354.5:n.279A>G
ENST00000460577.5:n.248A>G
ENST00000494441.1:n.359A>G
NM_000108.4:c.214A>G NP_000099.2:p.Lys72Glu
NM_001289750.1:c.-30-1138A>G NP_001276679.1:n.-30-1138A>G
NM_001289751.1:c.198+523A>G NP_001276680.1:n.198+523A>G
NM_001289752.1:c.214A>G NP_001276681.1:p.Lys72Glu
NM_000108.5:c.214A>G MANE Select NP_000099.2:p.Lys72Glu