{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343354896",
  "communityStandardTitle": [
    "NM_003001.5(SDHC):c.3G>T (p.Met1Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.161284198G>T?assembly=hg19",
        "id": "chr1:g.161284198G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.161314408G>T?assembly=hg38",
        "id": "chr1:g.161314408G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587776652",
        "rs": 587776652
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 161314408,
          "referenceAllele": "G",
          "start": 161314407
        }
      ],
      "hgvs": [
        "NC_000001.11:g.161314408G>T",
        "CM000663.2:g.161314408G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 161284198,
          "referenceAllele": "G",
          "start": 161284197
        }
      ],
      "hgvs": [
        "NC_000001.10:g.161284198G>T",
        "CM000663.1:g.161284198G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 159550822,
          "referenceAllele": "G",
          "start": 159550821
        }
      ],
      "hgvs": [
        "NC_000001.9:g.159550822G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "hgvs": [
        "NG_008055.1:g.565C>A",
        "LRG_256:g.565C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5033,
          "referenceAllele": "G",
          "start": 5032
        }
      ],
      "hgvs": [
        "NG_012767.1:g.5033G>T",
        "LRG_317:g.5033G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002530"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19,
          "referenceAllele": "G",
          "start": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000470743.5:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482902.2:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000482902.2:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28,
          "referenceAllele": "G",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000367975.7:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356953.3:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000356953.3:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750112",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367975.7:c.3G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003001.5:c.3G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356953.3:p.Met1Ile"
          },
          "RefSeq": {
            "hgvs": "NP_002992.1:p.Met1Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28,
          "referenceAllele": "G",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000342751.8:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356952.3:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000356952.3:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 152,
          "referenceAllele": "G",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000367975.6:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356953.2:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000356953.2:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21,
          "referenceAllele": "G",
          "start": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000392169.6:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376009.2:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000376009.2:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27,
          "referenceAllele": "G",
          "start": 26
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000432287.6:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390558.2:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000390558.2:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18,
          "referenceAllele": "G",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000504963.5:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423929.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000423929.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21,
          "referenceAllele": "G",
          "start": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000513009.5:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423260.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000423260.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28,
          "referenceAllele": "G",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "ENST00000515731.1:n.28G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825377370",
      "coordinates": [
        {
          "allele": "T",
          "end": 33,
          "referenceAllele": "G",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035511.1:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030588.1:p.Met1Ile",
        "hgvsWellDefined": "NP_001030588.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825377666",
      "coordinates": [
        {
          "allele": "T",
          "end": 33,
          "referenceAllele": "G",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035512.1:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030589.1:p.Met1Ile",
        "hgvsWellDefined": "NP_001030589.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825377986",
      "coordinates": [
        {
          "allele": "T",
          "end": 33,
          "referenceAllele": "G",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035513.1:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030590.1:p.Met1Ile",
        "hgvsWellDefined": "NP_001030590.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826582201",
      "coordinates": [
        {
          "allele": "T",
          "end": 33,
          "referenceAllele": "G",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001278172.1:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265101.1:p.Met1Ile",
        "hgvsWellDefined": "NP_001265101.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA254123",
      "coordinates": [
        {
          "allele": "T",
          "end": 33,
          "referenceAllele": "G",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_003001.3:c.3G>T",
        "LRG_317t1:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002992.1:p.Met1Ile",
        "hgvsWellDefined": "NP_002992.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33,
          "referenceAllele": "G",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NR_103459.1:n.33G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825377370",
      "coordinates": [
        {
          "allele": "T",
          "end": 28,
          "referenceAllele": "G",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035511.2:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030588.1:p.Met1Ile",
        "hgvsWellDefined": "NP_001030588.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675831"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825377666",
      "coordinates": [
        {
          "allele": "T",
          "end": 28,
          "referenceAllele": "G",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035512.2:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030589.1:p.Met1Ile",
        "hgvsWellDefined": "NP_001030589.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825377986",
      "coordinates": [
        {
          "allele": "T",
          "end": 28,
          "referenceAllele": "G",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001035513.2:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030590.1:p.Met1Ile",
        "hgvsWellDefined": "NP_001030590.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675833"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826582201",
      "coordinates": [
        {
          "allele": "T",
          "end": 28,
          "referenceAllele": "G",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_001278172.2:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265101.1:p.Met1Ile",
        "hgvsWellDefined": "NP_001265101.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA254123",
      "coordinates": [
        {
          "allele": "T",
          "end": 28,
          "referenceAllele": "G",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NM_003001.5:c.3G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002992.1:p.Met1Ile",
        "hgvsWellDefined": "NP_002992.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695703",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367975.7:c.3G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003001.5:c.3G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356953.3:p.Met1Ile"
          },
          "RefSeq": {
            "hgvs": "NP_002992.1:p.Met1Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28,
          "referenceAllele": "G",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010682",
      "geneNCBI_id": 6391,
      "geneSymbol": "SDHC",
      "hgvs": [
        "NR_103459.2:n.28G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702831"
    }
  ],
  "type": "nucleotide"
}