{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117976",
  "communityStandardTitle": [
    "NM_003705.5(SLC25A12):c.1769A>G (p.Gln590Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21187[alleleid]",
        "alleleId": 21187,
        "preferredName": "NM_003705.5(SLC25A12):c.1769A>G (p.Gln590Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6148",
        "RCV": [
          "RCV000006523"
        ],
        "variationId": 6148
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-172644147-T-C",
        "id": "2-172644147-T-C",
        "variant": "2:172644147 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.172644147T>C?assembly=hg19",
        "id": "chr2:g.172644147T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.171787637T>C?assembly=hg38",
        "id": "chr2:g.171787637T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434396",
        "rs": 121434396
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-172644147-T-C?dataset=gnomad_r2_1",
        "id": "2-172644147-T-C",
        "variant": "2:172644147 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-171787637-T-C?dataset=gnomad_r4",
        "id": "2-171787637-T-C",
        "variant": "2:171787637 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 171787637,
          "referenceAllele": "T",
          "start": 171787636
        }
      ],
      "hgvs": [
        "NC_000002.12:g.171787637T>C",
        "CM000664.2:g.171787637T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 172644147,
          "referenceAllele": "T",
          "start": 172644146
        }
      ],
      "hgvs": [
        "NC_000002.11:g.172644147T>C",
        "CM000664.1:g.172644147T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 172352393,
          "referenceAllele": "T",
          "start": 172352392
        }
      ],
      "hgvs": [
        "NC_000002.10:g.172352393T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 111667,
          "referenceAllele": "A",
          "start": 111666
        }
      ],
      "hgvs": [
        "NG_011781.1:g.111667A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 111667,
          "referenceAllele": "A",
          "start": 111666
        }
      ],
      "hgvs": [
        "NG_011781.2:g.111667A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673559"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1799,
          "referenceAllele": "A",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010982",
      "geneNCBI_id": 8604,
      "geneSymbol": "SLC25A12",
      "hgvs": [
        "ENST00000422440.7:c.1769A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388658.2:p.Gln590Arg",
        "hgvsWellDefined": "ENSP00000388658.2:p.Gln590Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754926",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422440.7:c.1769A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003705.5:c.1769A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000388658.2:p.Gln590Arg"
          },
          "RefSeq": {
            "hgvs": "NP_003696.2:p.Gln590Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1662,
          "referenceAllele": "A",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010982",
      "geneNCBI_id": 8604,
      "geneSymbol": "SLC25A12",
      "hgvs": [
        "ENST00000263812.8:c.*1389A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263812.4:n.*1389A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1807,
          "referenceAllele": "A",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010982",
      "geneNCBI_id": 8604,
      "geneSymbol": "SLC25A12",
      "hgvs": [
        "ENST00000422440.6:c.1769A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388658.2:p.Gln590Arg",
        "hgvsWellDefined": "ENSP00000388658.2:p.Gln590Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1179,
          "referenceAllele": "A",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010982",
      "geneNCBI_id": 8604,
      "geneSymbol": "SLC25A12",
      "hgvs": [
        "ENST00000472070.1:n.1179A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111640",
      "coordinates": [
        {
          "allele": "G",
          "end": 1861,
          "referenceAllele": "A",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010982",
      "geneNCBI_id": 8604,
      "geneSymbol": "SLC25A12",
      "hgvs": [
        "NM_003705.4:c.1769A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003696.2:p.Gln590Arg",
        "hgvsWellDefined": "NP_003696.2:p.Gln590Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1745,
          "referenceAllele": "A",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010982",
      "geneNCBI_id": 8604,
      "geneSymbol": "SLC25A12",
      "hgvs": [
        "NR_047549.1:n.1745A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1777,
          "referenceAllele": "A",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010982",
      "geneNCBI_id": 8604,
      "geneSymbol": "SLC25A12",
      "hgvs": [
        "XM_005246923.3:c.1718A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246980.1:p.Gln573Arg",
        "hgvsWellDefined": "XP_005246980.1:p.Gln573Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1782,
          "endIntronDirection": "+",
          "endIntronOffset": 152,
          "referenceAllele": "A",
          "start": 1782,
          "startIntronDirection": "+",
          "startIntronOffset": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010982",
      "geneNCBI_id": 8604,
      "geneSymbol": "SLC25A12",
      "hgvs": [
        "XM_011512069.1:c.1744+152A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510371.1:n.1744+152A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1903,
          "referenceAllele": "A",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010982",
      "geneNCBI_id": 8604,
      "geneSymbol": "SLC25A12",
      "hgvs": [
        "XM_011512070.1:c.1496A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510372.1:p.Gln499Arg",
        "hgvsWellDefined": "XP_011510372.1:p.Gln499Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079328"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2691,
          "endIntronDirection": "-",
          "endIntronOffset": 5886,
          "referenceAllele": "T",
          "start": 2691,
          "startIntronDirection": "-",
          "startIntronOffset": 5887
        }
      ],
      "hgvs": [
        "XR_923577.1:n.2692-5887T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1903,
          "referenceAllele": "A",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010982",
      "geneNCBI_id": 8604,
      "geneSymbol": "SLC25A12",
      "hgvs": [
        "XM_011512070.3:c.1496A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510372.1:p.Gln499Arg",
        "hgvsWellDefined": "XP_011510372.1:p.Gln499Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542404"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111640",
      "coordinates": [
        {
          "allele": "G",
          "end": 1799,
          "referenceAllele": "A",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010982",
      "geneNCBI_id": 8604,
      "geneSymbol": "SLC25A12",
      "hgvs": [
        "NM_003705.5:c.1769A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003696.2:p.Gln590Arg",
        "hgvsWellDefined": "NP_003696.2:p.Gln590Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666139",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422440.7:c.1769A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003705.5:c.1769A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000388658.2:p.Gln590Arg"
          },
          "RefSeq": {
            "hgvs": "NP_003696.2:p.Gln590Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1683,
          "referenceAllele": "A",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010982",
      "geneNCBI_id": 8604,
      "geneSymbol": "SLC25A12",
      "hgvs": [
        "NR_047549.2:n.1683A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730455"
    }
  ],
  "type": "nucleotide"
}