{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1732859306",
  "communityStandardTitle": [
    "NM_000108.5(DLD):c.685G= (p.Gly229=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121964990",
        "rs": 121964990
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 107915506,
          "referenceAllele": "G",
          "start": 107915505
        }
      ],
      "hgvs": [
        "NC_000007.14:g.107915506G=",
        "CM000669.2:g.107915506G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 107555951,
          "referenceAllele": "G",
          "start": 107555950
        }
      ],
      "hgvs": [
        "NC_000007.13:g.107555951G=",
        "CM000669.1:g.107555951G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 107343187,
          "referenceAllele": "G",
          "start": 107343186
        }
      ],
      "hgvs": [
        "NC_000007.12:g.107343187G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29366,
          "referenceAllele": "G",
          "start": 29365
        }
      ],
      "hgvs": [
        "NG_008045.1:g.29366G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000801"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000205402.10:c.685G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205402.3:p.Gly229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740174",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205402.10:c.685G="
          },
          "RefSeq": {
            "hgvs": "NM_000108.5:c.685G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205402.3:p.Gly229="
          },
          "RefSeq": {
            "hgvs": "NP_000099.2:p.Gly229="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000205402.9:c.685G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205402.3:p.Gly229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 623,
          "referenceAllele": "G",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000415325.5:c.*359G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402593.1:n.*359G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000417551.5:c.685G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390667.1:p.Gly229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 618,
          "referenceAllele": "G",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000437604.6:c.541G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387542.2:p.Gly181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000440410.5:c.616G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417016.1:p.Gly206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 841,
          "referenceAllele": "G",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000451081.5:c.*428G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388077.1:n.*428G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301009"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461404",
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "NM_000108.4:c.685G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000099.2:p.Gly229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "NM_001289750.1:c.388G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001276679.1:p.Gly130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 760,
          "referenceAllele": "G",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "NM_001289751.1:c.616G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001276680.1:p.Gly206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023911"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "NM_001289752.1:c.541G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001276681.1:p.Gly181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461404",
      "coordinates": [
        {
          "allele": "G",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "NM_000108.5:c.685G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000099.2:p.Gly229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205402.10:c.685G="
          },
          "RefSeq": {
            "hgvs": "NM_000108.5:c.685G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205402.3:p.Gly229="
          },
          "RefSeq": {
            "hgvs": "NP_000099.2:p.Gly229="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}