{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1732852198",
  "communityStandardTitle": [
    "NM_000108.5(DLD):c.112C= (p.Gln38=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516698",
        "rs": 1057516698
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 107893272,
          "referenceAllele": "C",
          "start": 107893271
        }
      ],
      "hgvs": [
        "NC_000007.14:g.107893272C=",
        "CM000669.2:g.107893272C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 107533717,
          "referenceAllele": "C",
          "start": 107533716
        }
      ],
      "hgvs": [
        "NC_000007.13:g.107533717C=",
        "CM000669.1:g.107533717C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 107320953,
          "referenceAllele": "C",
          "start": 107320952
        }
      ],
      "hgvs": [
        "NC_000007.12:g.107320953C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7132,
          "referenceAllele": "C",
          "start": 7131
        }
      ],
      "hgvs": [
        "NG_008045.1:g.7132C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000801"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 180,
          "referenceAllele": "C",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000205402.10:c.112C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205402.3:p.Gln38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740174",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205402.10:c.112C="
          },
          "RefSeq": {
            "hgvs": "NM_000108.5:c.112C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205402.3:p.Gln38="
          },
          "RefSeq": {
            "hgvs": "NP_000099.2:p.Gln38="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 191,
          "referenceAllele": "C",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000639772.1:c.112C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492159.1:p.Gln38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 393,
          "referenceAllele": "C",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000205402.9:c.112C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205402.3:p.Gln38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 199,
          "referenceAllele": "C",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000415325.5:c.112C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402593.1:p.Gln38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 199,
          "referenceAllele": "C",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000417551.5:c.112C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390667.1:p.Gln38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 189,
          "referenceAllele": "C",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000437604.6:c.112C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387542.2:p.Gln38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 190,
          "referenceAllele": "C",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000440410.5:c.112C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417016.1:p.Gln38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 177,
          "referenceAllele": "C",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000450038.5:c.112C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409590.1:p.Gln38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 177,
          "referenceAllele": "C",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000451081.5:c.112C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388077.1:p.Gln38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 177,
          "referenceAllele": "C",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000453354.5:n.177C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS302066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 146,
          "referenceAllele": "C",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000460577.5:n.146C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305279"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 201,
          "referenceAllele": "C",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000485066.1:n.201C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324185"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 257,
          "referenceAllele": "C",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "ENST00000494441.1:n.257C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073935603",
      "coordinates": [
        {
          "allele": "C",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "NM_000108.4:c.112C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000099.2:p.Gln38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "NM_001289750.1:c.-37C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001276679.1:n.-37C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023910"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "NM_001289751.1:c.112C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001276680.1:p.Gln38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "NM_001289752.1:c.112C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001276681.1:p.Gln38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073935603",
      "coordinates": [
        {
          "allele": "C",
          "end": 180,
          "referenceAllele": "C",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002898",
      "geneNCBI_id": 1738,
      "geneSymbol": "DLD",
      "hgvs": [
        "NM_000108.5:c.112C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000099.2:p.Gln38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205402.10:c.112C="
          },
          "RefSeq": {
            "hgvs": "NM_000108.5:c.112C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205402.3:p.Gln38="
          },
          "RefSeq": {
            "hgvs": "NP_000099.2:p.Gln38="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}