Canonical Allele Identifier: CA16041119
Gene: DLD HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.107891290G>A
GRCh37 chr7:g.107531735G>A
gnomAD v4:
chr7-107891290-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000411628
ClinVar Variation:
371615
dbSNP:
111257462
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107891290G>A , CM000669.2:g.107891290G>A GRCh38
NC_000007.13:g.107531735G>A , CM000669.1:g.107531735G>A GRCh37
NC_000007.12:g.107318971G>A NCBI36
NG_008045.1:g.5150G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.39+1G>A MANE Select ENSP00000205402.3:n.39+1G>A
ENST00000639772.1:c.39+1G>A ENSP00000492159.1:n.39+1G>A
ENST00000205402.9:c.39+1G>A ENSP00000205402.3:n.39+1G>A
ENST00000415325.5:c.39+1G>A ENSP00000402593.1:n.39+1G>A
ENST00000417551.5:c.39+1G>A ENSP00000390667.1:n.39+1G>A
ENST00000437604.6:c.39+1G>A ENSP00000387542.2:n.39+1G>A
ENST00000440410.5:c.39+1G>A ENSP00000417016.1:n.39+1G>A
ENST00000450038.5:c.39+1G>A ENSP00000409590.1:n.39+1G>A
ENST00000451081.5:c.39+1G>A ENSP00000388077.1:n.39+1G>A
ENST00000453354.5:n.104+1G>A
ENST00000460577.5:n.73+1G>A
ENST00000485066.1:n.128+1G>A
NM_000108.4:c.39+1G>A NP_000099.2:n.39+1G>A
NM_001289750.1:c.-110+1G>A NP_001276679.1:n.-110+1G>A
NM_001289751.1:c.39+1G>A NP_001276680.1:n.39+1G>A
NM_001289752.1:c.39+1G>A NP_001276681.1:n.39+1G>A
NM_000108.5:c.39+1G>A MANE Select NP_000099.2:n.39+1G>A
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