{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119879",
  "communityStandardTitle": [
    "NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3854610",
        "active": true,
        "id": "COSM3854610"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23781[alleleid]",
        "alleleId": 23781,
        "preferredName": "NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8742",
        "RCV": [
          "RCV000009281",
          "RCV000456631",
          "RCV000573113",
          "RCV000790927",
          "RCV001818148",
          "RCV003315222",
          "RCV003473060"
        ],
        "variationId": 8742
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-251215-C-T",
        "id": "5-251215-C-T",
        "variant": "5:251215 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.251215C>T?assembly=hg19",
        "id": "chr5:g.251215C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.251100C>T?assembly=hg38",
        "id": "chr5:g.251100C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/9809219",
        "rs": 9809219
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-251215-C-T?dataset=gnomad_r2_1",
        "id": "5-251215-C-T",
        "variant": "5:251215 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-251100-C-T?dataset=gnomad_r3",
        "id": "5-251100-C-T",
        "variant": "5:251100 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-251100-C-T?dataset=gnomad_r4",
        "id": "5-251100-C-T",
        "variant": "5:251100 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 251100,
          "referenceAllele": "C",
          "start": 251099
        }
      ],
      "hgvs": [
        "NC_000005.10:g.251100C>T",
        "CM000667.2:g.251100C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 251215,
          "referenceAllele": "C",
          "start": 251214
        }
      ],
      "hgvs": [
        "NC_000005.9:g.251215C>T",
        "CM000667.1:g.251215C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 304215,
          "referenceAllele": "C",
          "start": 304214
        }
      ],
      "hgvs": [
        "NC_000005.8:g.304215C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37860,
          "referenceAllele": "C",
          "start": 37859
        }
      ],
      "hgvs": [
        "NG_012339.1:g.37860C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000264932.11:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264932.6:p.Arg554Trp",
        "hgvsWellDefined": "ENSP00000264932.6:p.Arg554Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742749",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264932.11:c.1660C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004168.4:c.1660C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264932.6:p.Arg554Trp"
          },
          "RefSeq": {
            "hgvs": "NP_004159.2:p.Arg554Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1522,
          "referenceAllele": "C",
          "start": 1521
        }
      ],
      "hgvs": [
        "ENST00000651543.1:c.*393C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499215.1:n.*393C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1775,
          "referenceAllele": "C",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000264932.10:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264932.6:p.Arg554Trp",
        "hgvsWellDefined": "ENSP00000264932.6:p.Arg554Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1832,
          "referenceAllele": "C",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000503674.5:n.1832C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1604,
          "endIntronDirection": "-",
          "endIntronOffset": 3292,
          "referenceAllele": "C",
          "start": 1604,
          "startIntronDirection": "-",
          "startIntronOffset": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000504309.5:c.1552-3293C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426514.1:n.1552-3293C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "referenceAllele": "C",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000505555.5:n.1700C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000507266.1:n.407C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85,
          "endIntronDirection": "+",
          "endIntronOffset": 57,
          "referenceAllele": "C",
          "start": 85,
          "startIntronDirection": "+",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000509082.1:n.85+57C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000510361.5:c.1516C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427703.1:p.Arg506Trp",
        "hgvsWellDefined": "ENSP00000427703.1:p.Arg506Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2407,
          "referenceAllele": "C",
          "start": 2406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000511810.5:n.2407C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1615,
          "referenceAllele": "C",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000514027.5:n.1615C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1246,
          "referenceAllele": "C",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000515752.5:n.1246C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 206,
          "endIntronDirection": "-",
          "endIntronOffset": 3257,
          "referenceAllele": "C",
          "start": 206,
          "startIntronDirection": "-",
          "startIntronOffset": 3258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000515815.5:c.207-3258C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1340,
          "referenceAllele": "C",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000617470.4:c.1225C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484230.1:p.Arg409Trp",
        "hgvsWellDefined": "ENSP00000484230.1:p.Arg409Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826839153",
      "coordinates": [
        {
          "allele": "T",
          "end": 1649,
          "referenceAllele": "C",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001294332.1:c.1516C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001281261.1:p.Arg506Trp",
        "hgvsWellDefined": "NP_001281261.1:p.Arg506Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113702",
      "coordinates": [
        {
          "allele": "T",
          "end": 1793,
          "referenceAllele": "C",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_004168.3:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004159.2:p.Arg554Trp",
        "hgvsWellDefined": "NP_004159.2:p.Arg554Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "endIntronDirection": "-",
          "endIntronOffset": 3292,
          "referenceAllele": "C",
          "start": 1684,
          "startIntronDirection": "-",
          "startIntronOffset": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_005248331.2:c.1552-3293C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248388.1:n.1552-3293C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1793,
          "referenceAllele": "C",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514072.1:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512374.1:p.Arg554Trp",
        "hgvsWellDefined": "XP_011512374.1:p.Arg554Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "endIntronDirection": "-",
          "endIntronOffset": 3292,
          "referenceAllele": "C",
          "start": 1684,
          "startIntronDirection": "-",
          "startIntronOffset": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514073.1:c.1552-3293C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512375.1:n.1552-3293C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1793,
          "referenceAllele": "C",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XR_925638.1:n.1793C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "endIntronDirection": "-",
          "endIntronOffset": 3292,
          "referenceAllele": "C",
          "start": 1684,
          "startIntronDirection": "-",
          "startIntronOffset": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001330758.1:c.1552-3293C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317687.1:n.1552-3293C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1707,
          "referenceAllele": "C",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514072.2:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512374.1:p.Arg554Trp",
        "hgvsWellDefined": "XP_011512374.1:p.Arg554Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "endIntronDirection": "-",
          "endIntronOffset": 3292,
          "referenceAllele": "C",
          "start": 1598,
          "startIntronDirection": "-",
          "startIntronOffset": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514073.2:c.1552-3293C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512375.1:n.1552-3293C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1707,
          "referenceAllele": "C",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_017009685.2:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865174.1:p.Arg554Trp",
        "hgvsWellDefined": "XP_016865174.1:p.Arg554Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1561,
          "referenceAllele": "C",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_024446143.1:c.1516C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301911.1:p.Arg506Trp",
        "hgvsWellDefined": "XP_024301911.1:p.Arg506Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1707,
          "referenceAllele": "C",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XR_002956167.1:n.1707C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113702",
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_004168.4:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004159.2:p.Arg554Trp",
        "hgvsWellDefined": "NP_004159.2:p.Arg554Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264932.11:c.1660C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004168.4:c.1660C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264932.6:p.Arg554Trp"
          },
          "RefSeq": {
            "hgvs": "NP_004159.2:p.Arg554Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826839153",
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001294332.2:c.1516C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001281261.1:p.Arg506Trp",
        "hgvsWellDefined": "NP_001281261.1:p.Arg506Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1587,
          "endIntronDirection": "-",
          "endIntronOffset": 3292,
          "referenceAllele": "C",
          "start": 1587,
          "startIntronDirection": "-",
          "startIntronOffset": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001330758.2:c.1552-3293C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317687.1:n.1552-3293C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718763"
    }
  ],
  "type": "nucleotide"
}