Canonical Allele Identifier: CA261260
Gene: DLD HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.107901759T>C
GRCh37 chr7:g.107542204T>C
Revel Score:
ENST00000205402 (MANE Select) 0.842
ENST00000417551 0.842
ENST00000440410 0.842
ENST00000437604 0.842
gnomAD v4:
chr7-107901759-T-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000033218
ClinVar Variation:
40188
dbSNP:
397514651
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107901759T>C , CM000669.2:g.107901759T>C GRCh38
NC_000007.13:g.107542204T>C , CM000669.1:g.107542204T>C GRCh37
NC_000007.12:g.107329440T>C NCBI36
NG_008045.1:g.15619T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.140T>C MANE Select ENSP00000205402.3:p.Ile47Thr
ENST00000639772.1:c.140T>C ENSP00000492159.1:p.Ile47Thr
ENST00000205402.9:c.140T>C ENSP00000205402.3:p.Ile47Thr
ENST00000415325.5:c.119-1719T>C ENSP00000402593.1:n.119-1719T>C
ENST00000417551.5:c.140T>C ENSP00000390667.1:p.Ile47Thr
ENST00000437604.6:c.140T>C ENSP00000387542.2:p.Ile47Thr
ENST00000440410.5:c.140T>C ENSP00000417016.1:p.Ile47Thr
ENST00000450038.5:c.140T>C ENSP00000409590.1:p.Ile47Thr
ENST00000451081.5:c.140T>C ENSP00000388077.1:p.Ile47Thr
ENST00000453354.5:n.205T>C
ENST00000460577.5:n.174T>C
ENST00000494441.1:n.285T>C
NM_000108.4:c.140T>C NP_000099.2:p.Ile47Thr
NM_001289750.1:c.-30-1719T>C NP_001276679.1:n.-30-1719T>C
NM_001289751.1:c.140T>C NP_001276680.1:p.Ile47Thr
NM_001289752.1:c.140T>C NP_001276681.1:p.Ile47Thr
NM_000108.5:c.140T>C MANE Select NP_000099.2:p.Ile47Thr
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