{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3071756968",
  "communityStandardTitle": [
    "NM_003001.5(SDHC):c.376T= (p.Tyr126=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/876658301",
        "rs": 876658301
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 161356811,
          "referenceAllele": "T",
          "start": 161356810
        }
      ],
      "hgvs": [
        "NC_000001.11:g.161356811T=",
        "CM000663.2:g.161356811T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 161326601,
          "referenceAllele": "T",
          "start": 161326600
        }
      ],
      "hgvs": [
        "NC_000001.10:g.161326601T=",
        "CM000663.1:g.161326601T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 159593225,
          "referenceAllele": "T",
          "start": 159593224
        }
      ],
      "hgvs": [
        "NC_000001.9:g.159593225T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 47436,
          "referenceAllele": "T",
          "start": 47435
        }
      ],
      "hgvs": [
        "NG_012767.1:g.47436T=",
        "LRG_317:g.47436T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002530"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "T",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000470743.5:c.*377T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482902.2:n.*377T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "T",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000367975.7:c.376T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356953.3:p.Tyr126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750112",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367975.7:c.376T="
          },
          "RefSeq": {
            "hgvs": "NM_003001.5:c.376T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356953.3:p.Tyr126="
          },
          "RefSeq": {
            "hgvs": "NP_002992.1:p.Tyr126="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 266,
          "endIntronDirection": "-",
          "endIntronOffset": 5517,
          "referenceAllele": "T",
          "start": 266,
          "startIntronDirection": "-",
          "startIntronOffset": 5518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000342751.8:c.242-5518T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356952.3:n.242-5518T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "referenceAllele": "T",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000367975.6:c.376T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356953.2:p.Tyr126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 235,
          "referenceAllele": "T",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000392169.6:c.217T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376009.2:p.Tyr73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 298,
          "referenceAllele": "T",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000432287.6:c.274T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390558.2:p.Tyr92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 474,
          "referenceAllele": "T",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000470743.4:c.474T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "referenceAllele": "T",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000504963.5:c.*199T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423929.1:n.*199T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 157,
          "endIntronDirection": "-",
          "endIntronOffset": 5517,
          "referenceAllele": "T",
          "start": 157,
          "startIntronDirection": "-",
          "startIntronOffset": 5518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000513009.5:c.140-5518T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423260.1:n.140-5518T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "endIntronDirection": "-",
          "endIntronOffset": 5517,
          "referenceAllele": "T",
          "start": 271,
          "startIntronDirection": "-",
          "startIntronOffset": 5518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035511.1:c.242-5518T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001030588.1:n.242-5518T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "referenceAllele": "T",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035512.1:c.274T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001030589.1:p.Tyr92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 247,
          "referenceAllele": "T",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035513.1:c.217T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001030590.1:p.Tyr73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "endIntronDirection": "-",
          "endIntronOffset": 5517,
          "referenceAllele": "T",
          "start": 169,
          "startIntronDirection": "-",
          "startIntronOffset": 5518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001278172.1:c.140-5518T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265101.1:n.140-5518T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064806614",
      "coordinates": [
        {
          "allele": "T",
          "end": 406,
          "referenceAllele": "T",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_003001.3:c.376T=",
        "LRG_317t1:c.376T="
      ],
      "proteinEffect": {
        "hgvs": "NP_002992.1:p.Tyr126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "T",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NR_103459.1:n.433T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 266,
          "endIntronDirection": "-",
          "endIntronOffset": 5517,
          "referenceAllele": "T",
          "start": 266,
          "startIntronDirection": "-",
          "startIntronOffset": 5518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035511.2:c.242-5518T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001030588.1:n.242-5518T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "T",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035512.2:c.274T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001030589.1:p.Tyr92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 242,
          "referenceAllele": "T",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035513.2:c.217T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001030590.1:p.Tyr73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "endIntronDirection": "-",
          "endIntronOffset": 5517,
          "referenceAllele": "T",
          "start": 164,
          "startIntronDirection": "-",
          "startIntronOffset": 5518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001278172.2:c.140-5518T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265101.1:n.140-5518T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064806614",
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "T",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_003001.5:c.376T="
      ],
      "proteinEffect": {
        "hgvs": "NP_002992.1:p.Tyr126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695703",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367975.7:c.376T="
          },
          "RefSeq": {
            "hgvs": "NM_003001.5:c.376T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356953.3:p.Tyr126="
          },
          "RefSeq": {
            "hgvs": "NP_002992.1:p.Tyr126="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 428,
          "referenceAllele": "T",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NR_103459.2:n.428T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702831"
    }
  ],
  "type": "nucleotide"
}