{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1727530045",
  "communityStandardTitle": [
    "NM_014251.3(SLC25A13):c.1505C= (p.Pro502=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139149160",
        "rs": 139149160
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 96131829,
          "referenceAllele": "G",
          "start": 96131828
        }
      ],
      "hgvs": [
        "NC_000007.14:g.96131829G=",
        "CM000669.2:g.96131829G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 95761141,
          "referenceAllele": "G",
          "start": 95761140
        }
      ],
      "hgvs": [
        "NC_000007.13:g.95761141G=",
        "CM000669.1:g.95761141G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 95599077,
          "referenceAllele": "G",
          "start": 95599076
        }
      ],
      "hgvs": [
        "NC_000007.12:g.95599077G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 195319,
          "referenceAllele": "C",
          "start": 195318
        }
      ],
      "hgvs": [
        "NG_012247.1:g.195319C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 195319,
          "referenceAllele": "C",
          "start": 195318
        }
      ],
      "hgvs": [
        "NG_012247.2:g.195319C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673591"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1647,
          "referenceAllele": "C",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "ENST00000265631.10:c.1505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265631.6:p.Pro502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742861",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265631.10:c.1505C="
          },
          "RefSeq": {
            "hgvs": "NM_014251.3:c.1505C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265631.6:p.Pro502="
          },
          "RefSeq": {
            "hgvs": "NP_055066.1:p.Pro502="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1642,
          "referenceAllele": "C",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "ENST00000265631.9:c.1505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265631.5:p.Pro502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "ENST00000416240.6:c.1508C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400101.2:p.Pro503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825946459",
      "coordinates": [
        {
          "allele": "C",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "NM_001160210.1:c.1508C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001153682.1:p.Pro503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829752995",
      "coordinates": [
        {
          "allele": "C",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "NM_014251.2:c.1505C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055066.1:p.Pro502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1580,
          "referenceAllele": "C",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "NR_027662.1:n.1580C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047816"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1575,
          "referenceAllele": "C",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XM_006715831.2:c.1538C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715894.1:p.Pro513="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071376"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 747,
          "referenceAllele": "C",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XM_011515728.1:c.653C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514030.1:p.Pro218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1633,
          "referenceAllele": "C",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XM_006715831.4:c.1538C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715894.1:p.Pro513="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XM_017011663.1:c.1496C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867152.1:p.Pro499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1567,
          "referenceAllele": "C",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XM_017011664.2:c.653C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867153.1:p.Pro218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1459,
          "referenceAllele": "C",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XM_017011665.1:c.653C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867154.1:p.Pro218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565464"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1751,
          "referenceAllele": "C",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XR_001744525.2:n.1751C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593335"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2309,
          "referenceAllele": "C",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XR_002956405.1:n.2309C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829752995",
      "coordinates": [
        {
          "allele": "C",
          "end": 1647,
          "referenceAllele": "C",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "NM_014251.3:c.1505C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055066.1:p.Pro502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265631.10:c.1505C="
          },
          "RefSeq": {
            "hgvs": "NM_014251.3:c.1505C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265631.6:p.Pro502="
          },
          "RefSeq": {
            "hgvs": "NP_055066.1:p.Pro502="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1531,
          "referenceAllele": "C",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "NR_027662.2:n.1531C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825946459",
      "coordinates": [
        {
          "allele": "C",
          "end": 1650,
          "referenceAllele": "C",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "NM_001160210.2:c.1508C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001153682.1:p.Pro503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712968"
    }
  ],
  "type": "nucleotide"
}