{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4353197",
  "communityStandardTitle": [
    "NM_014251.3(SLC25A13):c.674C>T (p.Ser225Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1093390",
        "active": true,
        "id": "COSM1093390"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2741998[alleleid]",
        "alleleId": 2741998,
        "preferredName": "NM_014251.3(SLC25A13):c.674C>T (p.Ser225Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2577097",
        "RCV": [
          "RCV003324174"
        ],
        "variationId": 2577097
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-95820501-G-A",
        "id": "7-95820501-G-A",
        "variant": "7:95820501 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.95820501G>A?assembly=hg19",
        "id": "chr7:g.95820501G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.96191189G>A?assembly=hg38",
        "id": "chr7:g.96191189G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338719",
        "rs": 80338719
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-95820501-G-A?dataset=gnomad_r2_1",
        "id": "7-95820501-G-A",
        "variant": "7:95820501 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-96191189-G-A?dataset=gnomad_r3",
        "id": "7-96191189-G-A",
        "variant": "7:96191189 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-96191189-G-A?dataset=gnomad_r4",
        "id": "7-96191189-G-A",
        "variant": "7:96191189 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 96191189,
          "referenceAllele": "G",
          "start": 96191188
        }
      ],
      "hgvs": [
        "NC_000007.14:g.96191189G>A",
        "CM000669.2:g.96191189G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 95820501,
          "referenceAllele": "G",
          "start": 95820500
        }
      ],
      "hgvs": [
        "NC_000007.13:g.95820501G>A",
        "CM000669.1:g.95820501G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 95658437,
          "referenceAllele": "G",
          "start": 95658436
        }
      ],
      "hgvs": [
        "NC_000007.12:g.95658437G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135959,
          "referenceAllele": "C",
          "start": 135958
        }
      ],
      "hgvs": [
        "NG_012247.1:g.135959C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135959,
          "referenceAllele": "C",
          "start": 135958
        }
      ],
      "hgvs": [
        "NG_012247.2:g.135959C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673591"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "ENST00000265631.10:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265631.6:p.Ser225Leu",
        "hgvsWellDefined": "ENSP00000265631.6:p.Ser225Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742861",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265631.10:c.674C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014251.3:c.674C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265631.6:p.Ser225Leu"
          },
          "RefSeq": {
            "hgvs": "NP_055066.1:p.Ser225Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "ENST00000265631.9:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265631.5:p.Ser225Leu",
        "hgvsWellDefined": "ENSP00000265631.5:p.Ser225Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "ENST00000416240.6:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400101.2:p.Ser225Leu",
        "hgvsWellDefined": "ENSP00000400101.2:p.Ser225Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825946346",
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "NM_001160210.1:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153682.1:p.Ser225Leu",
        "hgvsWellDefined": "NP_001153682.1:p.Ser225Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741942152",
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "NM_014251.2:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055066.1:p.Ser225Leu",
        "hgvsWellDefined": "NP_055066.1:p.Ser225Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "C",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "NR_027662.1:n.749C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XM_006715831.2:c.707C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715894.1:p.Ser236Leu",
        "hgvsWellDefined": "XP_006715894.1:p.Ser236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XM_011515727.1:c.707C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514029.1:p.Ser236Leu",
        "hgvsWellDefined": "XP_011514029.1:p.Ser236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10,
          "referenceAllele": "C",
          "start": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XM_011515728.1:c.-85C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514030.1:n.-85C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XM_006715831.4:c.707C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715894.1:p.Ser236Leu",
        "hgvsWellDefined": "XP_006715894.1:p.Ser236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 988,
          "referenceAllele": "C",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XM_011515727.3:c.707C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514029.1:p.Ser236Leu",
        "hgvsWellDefined": "XP_011514029.1:p.Ser236Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XM_017011663.1:c.665C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867152.1:p.Ser222Leu",
        "hgvsWellDefined": "XP_016867152.1:p.Ser222Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 830,
          "referenceAllele": "C",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XM_017011664.2:c.-85C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867153.1:n.-85C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XM_017011665.1:c.-85C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867154.1:n.-85C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 845,
          "referenceAllele": "C",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XR_001744525.2:n.845C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "XR_002956405.1:n.987C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741942152",
      "coordinates": [
        {
          "allele": "T",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "NM_014251.3:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055066.1:p.Ser225Leu",
        "hgvsWellDefined": "NP_055066.1:p.Ser225Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265631.10:c.674C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014251.3:c.674C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265631.6:p.Ser225Leu"
          },
          "RefSeq": {
            "hgvs": "NP_055066.1:p.Ser225Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "C",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "NR_027662.2:n.700C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825946346",
      "coordinates": [
        {
          "allele": "T",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010983",
      "geneNCBI_id": 10165,
      "geneSymbol": "SLC25A13",
      "hgvs": [
        "NM_001160210.2:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153682.1:p.Ser225Leu",
        "hgvsWellDefined": "NP_001153682.1:p.Ser225Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712968"
    }
  ],
  "type": "nucleotide"
}