{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2000553919",
  "communityStandardTitle": [
    "NM_003002.4(SDHD):c.361C= (p.Gln121=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/878854594",
        "rs": 878854594
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 112094851,
          "referenceAllele": "C",
          "start": 112094850
        }
      ],
      "hgvs": [
        "NC_000011.10:g.112094851C=",
        "CM000673.2:g.112094851C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 111965575,
          "referenceAllele": "C",
          "start": 111965574
        }
      ],
      "hgvs": [
        "NC_000011.9:g.111965575C=",
        "CM000673.1:g.111965575C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 111470785,
          "referenceAllele": "C",
          "start": 111470784
        }
      ],
      "hgvs": [
        "NC_000011.8:g.111470785C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13005,
          "referenceAllele": "C",
          "start": 13004
        }
      ],
      "hgvs": [
        "NG_012337.2:g.13005C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002375"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13005,
          "referenceAllele": "C",
          "start": 13004
        }
      ],
      "hgvs": [
        "NG_012337.3:g.13005C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616178"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "ENST00000530923.6:c.*100C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432946.2:n.*100C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 349,
          "endIntronDirection": "+",
          "endIntronOffset": 5840,
          "referenceAllele": "C",
          "start": 349,
          "startIntronDirection": "+",
          "startIntronOffset": 5839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "ENST00000534010.2:c.314+5840C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433202.2:n.314+5840C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "ENST00000375549.8:c.361C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364699.3:p.Gln121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751633",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375549.8:c.361C="
          },
          "RefSeq": {
            "hgvs": "NM_003002.4:c.361C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364699.3:p.Gln121="
          },
          "RefSeq": {
            "hgvs": "NP_002993.1:p.Gln121="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 349,
          "endIntronDirection": "+",
          "endIntronOffset": 5840,
          "referenceAllele": "C",
          "start": 349,
          "startIntronDirection": "+",
          "startIntronOffset": 5839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "ENST00000528021.6:c.314+5840C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432465.1:n.314+5840C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 496,
          "referenceAllele": "C",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "ENST00000375549.7:c.361C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364699.3:p.Gln121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "referenceAllele": "C",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "ENST00000525291.5:c.244C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436669.1:p.Gln82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 319,
          "endIntronDirection": "+",
          "endIntronOffset": 5840,
          "referenceAllele": "C",
          "start": 319,
          "startIntronDirection": "+",
          "startIntronOffset": 5839
        }
      ],
      "hgvs": [
        "ENST00000525987.5:n.319+5840C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 500,
          "referenceAllele": "C",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "ENST00000526592.5:c.*59C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432005.1:n.*59C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 349,
          "endIntronDirection": "+",
          "endIntronOffset": 5840,
          "referenceAllele": "C",
          "start": 349,
          "startIntronDirection": "+",
          "startIntronOffset": 5839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "ENST00000528021.5:c.314+5840C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432465.1:n.314+5840C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246637"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "ENST00000528048.5:c.216C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436217.1:p.Cys72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 390,
          "referenceAllele": "C",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "ENST00000528182.5:c.354C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435475.1:p.Cys118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 405,
          "referenceAllele": "C",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "ENST00000530923.5:c.405C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 319,
          "endIntronDirection": "+",
          "endIntronOffset": 5840,
          "referenceAllele": "C",
          "start": 319,
          "startIntronDirection": "+",
          "startIntronOffset": 5839
        }
      ],
      "hgvs": [
        "ENST00000531744.5:c.314+5840C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456957.1:n.314+5840C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 319,
          "endIntronDirection": "+",
          "endIntronOffset": 5840,
          "referenceAllele": "C",
          "start": 319,
          "startIntronDirection": "+",
          "startIntronOffset": 5839
        }
      ],
      "hgvs": [
        "ENST00000532699.1:c.314+5840C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456434.1:n.314+5840C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357586"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 145,
          "endIntronDirection": "+",
          "endIntronOffset": 5840,
          "referenceAllele": "C",
          "start": 145,
          "startIntronDirection": "+",
          "startIntronOffset": 5839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "ENST00000534010.1:c.145+5840C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358690"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826558257",
      "coordinates": [
        {
          "allele": "C",
          "end": 300,
          "referenceAllele": "C",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "NM_001276503.1:c.216C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001263432.1:p.Cys72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826558502",
      "coordinates": [
        {
          "allele": "C",
          "end": 328,
          "referenceAllele": "C",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "NM_001276504.1:c.244C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001263433.1:p.Gln82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "NM_001276506.1:c.*59C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001263435.1:n.*59C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829412654",
      "coordinates": [
        {
          "allele": "C",
          "end": 445,
          "referenceAllele": "C",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "NM_003002.3:c.361C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002993.1:p.Gln121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 499,
          "referenceAllele": "C",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "NR_077060.1:n.499C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829412654",
      "coordinates": [
        {
          "allele": "C",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "NM_003002.4:c.361C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002993.1:p.Gln121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665822",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375549.8:c.361C="
          },
          "RefSeq": {
            "hgvs": "NM_003002.4:c.361C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364699.3:p.Gln121="
          },
          "RefSeq": {
            "hgvs": "NP_002993.1:p.Gln121="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826558257",
      "coordinates": [
        {
          "allele": "C",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "NM_001276503.2:c.216C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001263432.1:p.Cys72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681327"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826558502",
      "coordinates": [
        {
          "allele": "C",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "NM_001276504.2:c.244C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001263433.1:p.Gln82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681328"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 526,
          "referenceAllele": "C",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "NM_001276506.2:c.*59C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001263435.1:n.*59C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010683",
      "geneNCBI_id": 6392,
      "geneSymbol": "SDHD",
      "hgvs": [
        "NR_077060.2:n.450C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702805"
    }
  ],
  "type": "nucleotide"
}