{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1882634443",
  "communityStandardTitle": [
    "NM_003172.4(SURF1):c.574C= (p.Arg192=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782190413",
        "rs": 782190413
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782289759",
        "rs": 782289759
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 133352708,
          "referenceAllele": "G",
          "start": 133352707
        }
      ],
      "hgvs": [
        "NC_000009.12:g.133352708G=",
        "CM000671.2:g.133352708G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 135209384,
          "referenceAllele": "G",
          "start": 135209383
        }
      ],
      "hgvs": [
        "NC_000009.10:g.135209384G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8799,
          "referenceAllele": "C",
          "start": 8798
        }
      ],
      "hgvs": [
        "NG_008477.1:g.8799C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "ENST00000371974.8:c.574C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361042.3:p.Arg192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750904",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371974.8:c.574C="
          },
          "RefSeq": {
            "hgvs": "NM_003172.4:c.574C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361042.3:p.Arg192="
          },
          "RefSeq": {
            "hgvs": "NP_003163.1:p.Arg192="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 606,
          "referenceAllele": "C",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "ENST00000371974.7:c.574C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361042.3:p.Arg192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 484,
          "referenceAllele": "C",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "ENST00000437995.1:n.484C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS294714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 564,
          "referenceAllele": "C",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "ENST00000495952.5:n.564C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "ENST00000615505.4:c.247C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482067.1:p.Arg83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402642"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826621509",
      "coordinates": [
        {
          "allele": "C",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "NM_001280787.1:c.247C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001267716.1:p.Arg83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829421513",
      "coordinates": [
        {
          "allele": "C",
          "end": 606,
          "referenceAllele": "C",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "NM_003172.3:c.574C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003163.1:p.Arg192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "XM_011518942.1:c.247C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517244.1:p.Arg83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086116"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829421513",
      "coordinates": [
        {
          "allele": "C",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "NM_003172.4:c.574C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003163.1:p.Arg192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665913",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371974.8:c.574C="
          },
          "RefSeq": {
            "hgvs": "NM_003172.4:c.574C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361042.3:p.Arg192="
          },
          "RefSeq": {
            "hgvs": "NP_003163.1:p.Arg192="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}