{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1732860746",
  "communityStandardTitle": [
    "NM_000108.5(DLD):c.1444A= (p.Arg482=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514650",
        "rs": 397514650
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 107919079,
          "referenceAllele": "A",
          "start": 107919078
        }
      ],
      "hgvs": [
        "NC_000007.14:g.107919079A=",
        "CM000669.2:g.107919079A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 107559524,
          "referenceAllele": "A",
          "start": 107559523
        }
      ],
      "hgvs": [
        "NC_000007.13:g.107559524A=",
        "CM000669.1:g.107559524A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 107346760,
          "referenceAllele": "A",
          "start": 107346759
        }
      ],
      "hgvs": [
        "NC_000007.12:g.107346760A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32939,
          "referenceAllele": "A",
          "start": 32938
        }
      ],
      "hgvs": [
        "NG_008045.1:g.32939A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000801"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1512,
          "referenceAllele": "A",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000205402.10:c.1444A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205402.3:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740174",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205402.10:c.1444A="
          },
          "RefSeq": {
            "hgvs": "NM_000108.5:c.1444A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205402.3:p.Arg482="
          },
          "RefSeq": {
            "hgvs": "NP_000099.2:p.Arg482="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1725,
          "referenceAllele": "A",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000205402.9:c.1444A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205402.3:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1382,
          "referenceAllele": "A",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000415325.5:c.*1118A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402593.1:n.*1118A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1531,
          "referenceAllele": "A",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000417551.5:c.1444A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390667.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1377,
          "referenceAllele": "A",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000437604.6:c.1300A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387542.2:p.Arg434="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1453,
          "referenceAllele": "A",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000440410.5:c.1375A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417016.1:p.Arg459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295873"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073559411",
      "coordinates": [
        {
          "allele": "A",
          "end": 1588,
          "referenceAllele": "A",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "NM_000108.4:c.1444A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000099.2:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1439,
          "referenceAllele": "A",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "NM_001289750.1:c.1147A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001276679.1:p.Arg383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1519,
          "referenceAllele": "A",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "NM_001289751.1:c.1375A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001276680.1:p.Arg459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023911"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "A",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "NM_001289752.1:c.1300A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001276681.1:p.Arg434="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073559411",
      "coordinates": [
        {
          "allele": "A",
          "end": 1512,
          "referenceAllele": "A",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "NM_000108.5:c.1444A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000099.2:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205402.10:c.1444A="
          },
          "RefSeq": {
            "hgvs": "NM_000108.5:c.1444A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205402.3:p.Arg482="
          },
          "RefSeq": {
            "hgvs": "NP_000099.2:p.Arg482="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}