Canonical Allele Identifier: CA577039471
Gene: DLD HGNC NCBI

Linked Data

dbSNP Id: rs1342536563
gnomAD v2: 7-107561073-G-A
gnomAD v3: 7-107920628-G-A
gnomAD v4: 7-107920628-G-A
MyVariant Identifiers: chr7:g.107561073G>A (hg19) chr7:g.107920628G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107920628G>A , CM000669.2:g.107920628G>A GRCh38
NC_000007.13:g.107561073G>A , CM000669.1:g.107561073G>A GRCh37
NC_000007.12:g.107348309G>A NCBI36
NG_008045.1:g.34488G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000205402.10:c.*1369G>A MANE Select ENSP00000205402.3:n.*1369G>A
ENST00000205402.9:c.*1369G>A ENSP00000205402.3:n.*1369G>A
ENST00000417551.5:c.*124+1245G>A ENSP00000390667.1:n.*124+1245G>A
NM_000108.4:c.*1369G>A NP_000099.2:n.*1369G>A
NM_001289750.1:c.*1369G>A NP_001276679.1:n.*1369G>A
NM_001289751.1:c.*1369G>A NP_001276680.1:n.*1369G>A
NM_001289752.1:c.*1369G>A NP_001276681.1:n.*1369G>A
NM_000108.5:c.*1369G>A MANE Select NP_000099.2:n.*1369G>A
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