{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1202708181",
  "communityStandardTitle": [
    "NM_003001.5(SDHC):c.380A= (p.His127=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786203457",
        "rs": 786203457
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 161356815,
          "referenceAllele": "A",
          "start": 161356814
        }
      ],
      "hgvs": [
        "NC_000001.11:g.161356815A=",
        "CM000663.2:g.161356815A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 161326605,
          "referenceAllele": "A",
          "start": 161326604
        }
      ],
      "hgvs": [
        "NC_000001.10:g.161326605A=",
        "CM000663.1:g.161326605A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 159593229,
          "referenceAllele": "A",
          "start": 159593228
        }
      ],
      "hgvs": [
        "NC_000001.9:g.159593229A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47440,
          "referenceAllele": "A",
          "start": 47439
        }
      ],
      "hgvs": [
        "NG_012767.1:g.47440A=",
        "LRG_317:g.47440A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002530"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "A",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000470743.5:c.*381A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482902.2:n.*381A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 405,
          "referenceAllele": "A",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000367975.7:c.380A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356953.3:p.His127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750112",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367975.7:c.380A="
          },
          "RefSeq": {
            "hgvs": "NM_003001.5:c.380A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356953.3:p.His127="
          },
          "RefSeq": {
            "hgvs": "NP_002992.1:p.His127="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 266,
          "endIntronDirection": "-",
          "endIntronOffset": 5513,
          "referenceAllele": "A",
          "start": 266,
          "startIntronDirection": "-",
          "startIntronOffset": 5514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000342751.8:c.242-5514A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356952.3:n.242-5514A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "referenceAllele": "A",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000367975.6:c.380A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356953.2:p.His127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "A",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000392169.6:c.221A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376009.2:p.His74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 302,
          "referenceAllele": "A",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000432287.6:c.278A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390558.2:p.His93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "referenceAllele": "A",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000470743.4:c.478A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 422,
          "referenceAllele": "A",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000504963.5:c.*203A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423929.1:n.*203A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157,
          "endIntronDirection": "-",
          "endIntronOffset": 5513,
          "referenceAllele": "A",
          "start": 157,
          "startIntronDirection": "-",
          "startIntronOffset": 5514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000513009.5:c.140-5514A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423260.1:n.140-5514A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 271,
          "endIntronDirection": "-",
          "endIntronOffset": 5513,
          "referenceAllele": "A",
          "start": 271,
          "startIntronDirection": "-",
          "startIntronOffset": 5514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035511.1:c.242-5514A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001030588.1:n.242-5514A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825377884",
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "referenceAllele": "A",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035512.1:c.278A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001030589.1:p.His93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825378171",
      "coordinates": [
        {
          "allele": "A",
          "end": 251,
          "referenceAllele": "A",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035513.1:c.221A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001030590.1:p.His74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 169,
          "endIntronDirection": "-",
          "endIntronOffset": 5513,
          "referenceAllele": "A",
          "start": 169,
          "startIntronDirection": "-",
          "startIntronOffset": 5514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001278172.1:c.140-5514A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265101.1:n.140-5514A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829412103",
      "coordinates": [
        {
          "allele": "A",
          "end": 410,
          "referenceAllele": "A",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_003001.3:c.380A=",
        "LRG_317t1:c.380A="
      ],
      "proteinEffect": {
        "hgvs": "NP_002992.1:p.His127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028282"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "referenceAllele": "A",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NR_103459.1:n.437A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 266,
          "endIntronDirection": "-",
          "endIntronOffset": 5513,
          "referenceAllele": "A",
          "start": 266,
          "startIntronDirection": "-",
          "startIntronOffset": 5514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035511.2:c.242-5514A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001030588.1:n.242-5514A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675831"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825377884",
      "coordinates": [
        {
          "allele": "A",
          "end": 303,
          "referenceAllele": "A",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035512.2:c.278A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001030589.1:p.His93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825378171",
      "coordinates": [
        {
          "allele": "A",
          "end": 246,
          "referenceAllele": "A",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035513.2:c.221A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001030590.1:p.His74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 164,
          "endIntronDirection": "-",
          "endIntronOffset": 5513,
          "referenceAllele": "A",
          "start": 164,
          "startIntronDirection": "-",
          "startIntronOffset": 5514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001278172.2:c.140-5514A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265101.1:n.140-5514A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829412103",
      "coordinates": [
        {
          "allele": "A",
          "end": 405,
          "referenceAllele": "A",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_003001.5:c.380A="
      ],
      "proteinEffect": {
        "hgvs": "NP_002992.1:p.His127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695703",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367975.7:c.380A="
          },
          "RefSeq": {
            "hgvs": "NM_003001.5:c.380A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356953.3:p.His127="
          },
          "RefSeq": {
            "hgvs": "NP_002992.1:p.His127="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 432,
          "referenceAllele": "A",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NR_103459.2:n.432A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702831"
    }
  ],
  "type": "nucleotide"
}