{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1930506964",
  "communityStandardTitle": [
    "NM_138413.4(HOGA1):c.839C= (p.Thr280=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/756489804",
        "rs": 756489804
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 97611514,
          "referenceAllele": "C",
          "start": 97611513
        }
      ],
      "hgvs": [
        "NC_000010.11:g.97611514C=",
        "CM000672.2:g.97611514C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 99371271,
          "referenceAllele": "C",
          "start": 99371270
        }
      ],
      "hgvs": [
        "NC_000010.10:g.99371271C=",
        "CM000672.1:g.99371271C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 99361261,
          "referenceAllele": "C",
          "start": 99361260
        }
      ],
      "hgvs": [
        "NC_000010.9:g.99361261C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32170,
          "referenceAllele": "C",
          "start": 32169
        }
      ],
      "hgvs": [
        "NG_027922.1:g.32170C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004005"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025155",
      "geneNCBI_id": 112817,
      "geneSymbol": "HOGA1",
      "hgvs": [
        "ENST00000370646.9:c.839C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359680.4:p.Thr280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750655",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370646.9:c.839C="
          },
          "RefSeq": {
            "hgvs": "NM_138413.4:c.839C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359680.4:p.Thr280="
          },
          "RefSeq": {
            "hgvs": "NP_612422.2:p.Thr280="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1200,
          "referenceAllele": "C",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025155",
      "geneNCBI_id": 112817,
      "geneSymbol": "HOGA1",
      "hgvs": [
        "ENST00000370646.8:c.839C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359680.4:p.Thr280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025155",
      "geneNCBI_id": 112817,
      "geneSymbol": "HOGA1",
      "hgvs": [
        "ENST00000370647.8:c.350C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359681.4:p.Thr117="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 675,
          "endIntronDirection": "+",
          "endIntronOffset": 9524,
          "referenceAllele": "C",
          "start": 675,
          "startIntronDirection": "+",
          "startIntronOffset": 9523
        }
      ],
      "hgvs": [
        "ENST00000370649.3:c.345+9524C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359683.3:n.345+9524C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "referenceAllele": "C",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025155",
      "geneNCBI_id": 112817,
      "geneSymbol": "HOGA1",
      "hgvs": [
        "NM_001134670.1:c.350C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001128142.1:p.Thr117="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076872211",
      "coordinates": [
        {
          "allele": "C",
          "end": 1198,
          "referenceAllele": "C",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025155",
      "geneNCBI_id": 112817,
      "geneSymbol": "HOGA1",
      "hgvs": [
        "NM_138413.3:c.839C="
      ],
      "proteinEffect": {
        "hgvs": "NP_612422.2:p.Thr280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076872211",
      "coordinates": [
        {
          "allele": "C",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025155",
      "geneNCBI_id": 112817,
      "geneSymbol": "HOGA1",
      "hgvs": [
        "NM_138413.4:c.839C="
      ],
      "proteinEffect": {
        "hgvs": "NP_612422.2:p.Thr280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671894",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370646.9:c.839C="
          },
          "RefSeq": {
            "hgvs": "NM_138413.4:c.839C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359680.4:p.Thr280="
          },
          "RefSeq": {
            "hgvs": "NP_612422.2:p.Thr280="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 665,
          "referenceAllele": "C",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025155",
      "geneNCBI_id": 112817,
      "geneSymbol": "HOGA1",
      "hgvs": [
        "NM_001134670.2:c.350C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001128142.1:p.Thr117="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712394"
    }
  ],
  "type": "nucleotide"
}