Canonical Allele Identifier: CA312464
Gene: DLD HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.107915584A>C
GRCh37 chr7:g.107556029A>C
Revel Score:
ENST00000205402 (MANE Select) 0.274
ENST00000417551 0.274
ENST00000537148 0.274
ENST00000440410 0.274
ENST00000437604 0.274
ENST00000539590 0.274
gnomAD v2:
7:107556029 A / C
gnomAD v3:
7:107915584 A / C
gnomAD v4:
chr7-107915584-A-C
Joint Max Group AF 0.00149328 (SAS)
Genomes Max Group AF 0.00028182 (SAS)
Exomes Max Group AF 0.00153312 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107915584A>C , CM000669.2:g.107915584A>C GRCh38
NC_000007.13:g.107556029A>C , CM000669.1:g.107556029A>C GRCh37
NC_000007.12:g.107343265A>C NCBI36
NG_008045.1:g.29444A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.763A>C MANE Select ENSP00000205402.3:p.Met255Leu
ENST00000205402.9:c.763A>C ENSP00000205402.3:p.Met255Leu
ENST00000415325.5:c.*437A>C ENSP00000402593.1:n.*437A>C
ENST00000417551.5:c.763A>C ENSP00000390667.1:p.Met255Leu
ENST00000437604.6:c.619A>C ENSP00000387542.2:p.Met207Leu
ENST00000440410.5:c.694A>C ENSP00000417016.1:p.Met232Leu
ENST00000451081.5:c.*506A>C ENSP00000388077.1:n.*506A>C
NM_000108.4:c.763A>C NP_000099.2:p.Met255Leu
NM_001289750.1:c.466A>C NP_001276679.1:p.Met156Leu
NM_001289751.1:c.694A>C NP_001276680.1:p.Met232Leu
NM_001289752.1:c.619A>C NP_001276681.1:p.Met207Leu
NM_000108.5:c.763A>C MANE Select NP_000099.2:p.Met255Leu
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