{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358579",
  "communityStandardTitle": [
    "NM_004168.4(SDHA):c.1368G>A (p.Ser456=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226817[alleleid]",
        "alleleId": 226817,
        "preferredName": "NM_004168.4(SDHA):c.1368G>A (p.Ser456=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224948",
        "RCV": [
          "RCV000210523",
          "RCV000247565",
          "RCV000570838",
          "RCV001080809",
          "RCV001157831",
          "RCV001157832",
          "RCV001157833",
          "RCV003316163"
        ],
        "variationId": 224948
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-236650-G-A",
        "id": "5-236650-G-A",
        "variant": "5:236650 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.236650G>A?assembly=hg19",
        "id": "chr5:g.236650G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.236535G>A?assembly=hg38",
        "id": "chr5:g.236535G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149875171",
        "rs": 149875171
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-236650-G-A?dataset=gnomad_r2_1",
        "id": "5-236650-G-A",
        "variant": "5:236650 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-236535-G-A?dataset=gnomad_r3",
        "id": "5-236535-G-A",
        "variant": "5:236535 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-236535-G-A?dataset=gnomad_r4",
        "id": "5-236535-G-A",
        "variant": "5:236535 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 236535,
          "referenceAllele": "G",
          "start": 236534
        }
      ],
      "hgvs": [
        "NC_000005.10:g.236535G>A",
        "CM000667.2:g.236535G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 236650,
          "referenceAllele": "G",
          "start": 236649
        }
      ],
      "hgvs": [
        "NC_000005.9:g.236650G>A",
        "CM000667.1:g.236650G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 289650,
          "referenceAllele": "G",
          "start": 289649
        }
      ],
      "hgvs": [
        "NC_000005.8:g.289650G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23295,
          "referenceAllele": "G",
          "start": 23294
        }
      ],
      "hgvs": [
        "NG_012339.1:g.23295G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000264932.11:c.1368G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264932.6:p.Ser456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742749",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264932.11:c.1368G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004168.4:c.1368G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264932.6:p.Ser456="
          },
          "RefSeq": {
            "hgvs": "NP_004159.2:p.Ser456="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "hgvs": [
        "ENST00000651543.1:c.*101G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499215.1:n.*101G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1483,
          "referenceAllele": "G",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000264932.10:c.1368G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264932.6:p.Ser456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1421,
          "referenceAllele": "G",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000504309.5:c.1368G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426514.1:p.Ser456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1408,
          "referenceAllele": "G",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000505555.5:n.1408G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1262,
          "referenceAllele": "G",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000510361.5:c.1224G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427703.1:p.Ser408="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2115,
          "referenceAllele": "G",
          "start": 2114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000511810.5:n.2115G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1323,
          "referenceAllele": "G",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000514027.5:n.1323G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 954,
          "referenceAllele": "G",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000515752.5:n.954G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23,
          "referenceAllele": "G",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000515815.5:c.23G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1048,
          "referenceAllele": "G",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000617470.4:c.933G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484230.1:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826838891",
      "coordinates": [
        {
          "allele": "A",
          "end": 1357,
          "referenceAllele": "G",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001294332.1:c.1224G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001281261.1:p.Ser408="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829481587",
      "coordinates": [
        {
          "allele": "A",
          "end": 1501,
          "referenceAllele": "G",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_004168.3:c.1368G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004159.2:p.Ser456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1501,
          "referenceAllele": "G",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_005248331.2:c.1368G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248388.1:p.Ser456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1501,
          "referenceAllele": "G",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514072.1:c.1368G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512374.1:p.Ser456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1501,
          "referenceAllele": "G",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514073.1:c.1368G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512375.1:p.Ser456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1501,
          "referenceAllele": "G",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XR_925638.1:n.1501G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122437"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827348441",
      "coordinates": [
        {
          "allele": "A",
          "end": 1501,
          "referenceAllele": "G",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001330758.1:c.1368G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317687.1:p.Ser456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1415,
          "referenceAllele": "G",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514072.2:c.1368G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512374.1:p.Ser456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1415,
          "referenceAllele": "G",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514073.2:c.1368G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512375.1:p.Ser456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1415,
          "referenceAllele": "G",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_017009685.2:c.1368G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865174.1:p.Ser456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_024446143.1:c.1224G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301911.1:p.Ser408="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1415,
          "referenceAllele": "G",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XR_002956167.1:n.1415G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829481587",
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_004168.4:c.1368G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004159.2:p.Ser456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264932.11:c.1368G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004168.4:c.1368G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264932.6:p.Ser456="
          },
          "RefSeq": {
            "hgvs": "NP_004159.2:p.Ser456="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826838891",
      "coordinates": [
        {
          "allele": "A",
          "end": 1260,
          "referenceAllele": "G",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001294332.2:c.1224G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001281261.1:p.Ser408="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716777"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827348441",
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001330758.2:c.1368G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317687.1:p.Ser456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718763"
    }
  ],
  "type": "nucleotide"
}