{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1912982817",
  "communityStandardTitle": [
    "NM_003201.3(TFAM):c.35G= (p.Ser12=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1937",
        "rs": 1937
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 58385582,
          "referenceAllele": "G",
          "start": 58385581
        }
      ],
      "hgvs": [
        "NC_000010.11:g.58385582G=",
        "CM000672.2:g.58385582G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 60145342,
          "referenceAllele": "G",
          "start": 60145341
        }
      ],
      "hgvs": [
        "NC_000010.10:g.60145342G=",
        "CM000672.1:g.60145342G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 59815348,
          "referenceAllele": "G",
          "start": 59815347
        }
      ],
      "hgvs": [
        "NC_000010.9:g.59815348G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5440,
          "referenceAllele": "G",
          "start": 5439
        }
      ],
      "hgvs": [
        "NG_053006.1:g.5440G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011741",
      "geneNCBI_id": 7019,
      "geneSymbol": "TFAM",
      "hgvs": [
        "ENST00000487519.6:c.35G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420588.1:p.Ser12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757566",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487519.6:c.35G="
          },
          "RefSeq": {
            "hgvs": "NM_003201.3:c.35G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420588.1:p.Ser12="
          },
          "RefSeq": {
            "hgvs": "NP_003192.1:p.Ser12="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 149,
          "referenceAllele": "G",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011741",
      "geneNCBI_id": 7019,
      "geneSymbol": "TFAM",
      "hgvs": [
        "ENST00000373895.7:c.35G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363002.3:p.Ser12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011741",
      "geneNCBI_id": 7019,
      "geneSymbol": "TFAM",
      "hgvs": [
        "ENST00000373899.3:n.238G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS269955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011741",
      "geneNCBI_id": 7019,
      "geneSymbol": "TFAM",
      "hgvs": [
        "ENST00000487519.5:c.35G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420588.1:p.Ser12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "referenceAllele": "G",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011741",
      "geneNCBI_id": 7019,
      "geneSymbol": "TFAM",
      "hgvs": [
        "NM_001270782.1:c.35G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257711.1:p.Ser12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076678677",
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "referenceAllele": "G",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011741",
      "geneNCBI_id": 7019,
      "geneSymbol": "TFAM",
      "hgvs": [
        "NM_003201.2:c.35G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003192.1:p.Ser12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "referenceAllele": "G",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011741",
      "geneNCBI_id": 7019,
      "geneSymbol": "TFAM",
      "hgvs": [
        "NR_073073.1:n.440G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052465"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178,
          "referenceAllele": "G",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011741",
      "geneNCBI_id": 7019,
      "geneSymbol": "TFAM",
      "hgvs": [
        "XM_011540120.1:c.35G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538422.1:p.Ser12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178,
          "referenceAllele": "G",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011741",
      "geneNCBI_id": 7019,
      "geneSymbol": "TFAM",
      "hgvs": [
        "XM_011540121.1:c.35G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538423.1:p.Ser12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 174,
          "referenceAllele": "G",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011741",
      "geneNCBI_id": 7019,
      "geneSymbol": "TFAM",
      "hgvs": [
        "XM_011540121.3:c.35G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538423.1:p.Ser12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076678677",
      "coordinates": [
        {
          "allele": "G",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011741",
      "geneNCBI_id": 7019,
      "geneSymbol": "TFAM",
      "hgvs": [
        "NM_003201.3:c.35G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003192.1:p.Ser12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665925",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487519.6:c.35G="
          },
          "RefSeq": {
            "hgvs": "NM_003201.3:c.35G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420588.1:p.Ser12="
          },
          "RefSeq": {
            "hgvs": "NP_003192.1:p.Ser12="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011741",
      "geneNCBI_id": 7019,
      "geneSymbol": "TFAM",
      "hgvs": [
        "NM_001270782.2:c.35G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257711.1:p.Ser12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011741",
      "geneNCBI_id": 7019,
      "geneSymbol": "TFAM",
      "hgvs": [
        "NR_073073.2:n.173G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730509"
    }
  ],
  "type": "nucleotide"
}