{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA292502",
  "communityStandardTitle": [
    "NM_004551.3(NDUFS3):c.591T>C (p.Pro197=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=142193[alleleid]",
        "alleleId": 142193,
        "preferredName": "NM_004551.3(NDUFS3):c.591T>C (p.Pro197=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/138490",
        "RCV": [
          "RCV000127155",
          "RCV000969794",
          "RCV001000472",
          "RCV001107482",
          "RCV001107483"
        ],
        "variationId": 138490
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-47603984-T-C",
        "id": "11-47603984-T-C",
        "variant": "11:47603984 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47603984T>C?assembly=hg19",
        "id": "chr11:g.47603984T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47582432T>C?assembly=hg38",
        "id": "chr11:g.47582432T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/77113494",
        "rs": 77113494
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47603984-T-C?dataset=gnomad_r2_1",
        "id": "11-47603984-T-C",
        "variant": "11:47603984 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47582432-T-C?dataset=gnomad_r3",
        "id": "11-47582432-T-C",
        "variant": "11:47582432 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47582432-T-C?dataset=gnomad_r4",
        "id": "11-47582432-T-C",
        "variant": "11:47582432 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 47582432,
          "referenceAllele": "T",
          "start": 47582431
        }
      ],
      "hgvs": [
        "NC_000011.10:g.47582432T>C",
        "CM000673.2:g.47582432T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 47603984,
          "referenceAllele": "T",
          "start": 47603983
        }
      ],
      "hgvs": [
        "NC_000011.9:g.47603984T>C",
        "CM000673.1:g.47603984T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 47560560,
          "referenceAllele": "T",
          "start": 47560559
        }
      ],
      "hgvs": [
        "NC_000011.8:g.47560560T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8423,
          "referenceAllele": "T",
          "start": 8422
        }
      ],
      "hgvs": [
        "NG_011946.1:g.8423T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002065"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8423,
          "referenceAllele": "T",
          "start": 8422
        }
      ],
      "hgvs": [
        "NG_011946.2:g.8423T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 609,
          "referenceAllele": "T",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000263774.9:c.591T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263774.4:p.Pro197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263774.9:c.591T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004551.3:c.591T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263774.4:p.Pro197="
          },
          "RefSeq": {
            "hgvs": "NP_004542.1:p.Pro197="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1786,
          "referenceAllele": "T",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000531351.2:n.1786T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3065,
          "referenceAllele": "T",
          "start": 3064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000677462.1:n.3065T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2848,
          "referenceAllele": "T",
          "start": 2847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000678975.1:n.2848T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 673,
          "referenceAllele": "T",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000263774.8:c.591T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263774.4:p.Pro197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "T",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000524568.1:n.694T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 246,
          "referenceAllele": "T",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000525212.1:n.246T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 529,
          "referenceAllele": "T",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000525378.5:n.529T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 191,
          "referenceAllele": "T",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000527178.1:n.191T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352929"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1485,
          "referenceAllele": "T",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "ENST00000533507.5:n.1485T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829545795",
      "coordinates": [
        {
          "allele": "C",
          "end": 673,
          "referenceAllele": "T",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "NM_004551.2:c.591T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004542.1:p.Pro197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029708"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829545795",
      "coordinates": [
        {
          "allele": "C",
          "end": 609,
          "referenceAllele": "T",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "NM_004551.3:c.591T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004542.1:p.Pro197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666538",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263774.9:c.591T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004551.3:c.591T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263774.4:p.Pro197="
          },
          "RefSeq": {
            "hgvs": "NP_004542.1:p.Pro197="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}