{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9892205",
  "communityStandardTitle": [
    "NM_030777.4(SLC2A10):c.1412-3C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=379704[alleleid]",
        "alleleId": 379704,
        "preferredName": "NM_030777.4(SLC2A10):c.1412-3C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/390198",
        "RCV": [
          "RCV000421568",
          "RCV000808509",
          "RCV002313128"
        ],
        "variationId": 390198
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-45357989-C-T",
        "id": "20-45357989-C-T",
        "variant": "20:45357989 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.45357989C>T?assembly=hg19",
        "id": "chr20:g.45357989C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.46729350C>T?assembly=hg38",
        "id": "chr20:g.46729350C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374857656",
        "rs": 374857656
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-45357989-C-T?dataset=gnomad_r2_1",
        "id": "20-45357989-C-T",
        "variant": "20:45357989 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-46729350-C-T?dataset=gnomad_r3",
        "id": "20-46729350-C-T",
        "variant": "20:46729350 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-46729350-C-T?dataset=gnomad_r4",
        "id": "20-46729350-C-T",
        "variant": "20:46729350 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 46729350,
          "referenceAllele": "C",
          "start": 46729349
        }
      ],
      "hgvs": [
        "NC_000020.11:g.46729350C>T",
        "CM000682.2:g.46729350C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 45357989,
          "referenceAllele": "C",
          "start": 45357988
        }
      ],
      "hgvs": [
        "NC_000020.10:g.45357989C>T",
        "CM000682.1:g.45357989C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 44791396,
          "referenceAllele": "C",
          "start": 44791395
        }
      ],
      "hgvs": [
        "NC_000020.9:g.44791396C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24711,
          "referenceAllele": "C",
          "start": 24710
        }
      ],
      "hgvs": [
        "NG_016284.1:g.24711C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003075"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1499,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1499,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "ENST00000359271.4:c.1412-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352216.2:n.1412-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749176",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359271.4:c.1412-3C>T"
          },
          "RefSeq": {
            "hgvs": "NM_030777.4:c.1412-3C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352216.2:n.1412-3C>T"
          },
          "RefSeq": {
            "hgvs": "NP_110404.1:n.1412-3C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1661,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1661,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "ENST00000359271.3:c.1412-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352216.2:n.1412-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1508,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1508,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "NM_030777.3:c.1412-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_110404.1:n.1412-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1604,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1604,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529060.1:c.1475-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527362.1:n.1475-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1647,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1647,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529061.1:c.1421-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527363.1:n.1421-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1662,
          "endIntronDirection": "+",
          "endIntronOffset": 2364,
          "referenceAllele": "C",
          "start": 1662,
          "startIntronDirection": "+",
          "startIntronOffset": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529062.1:c.1523+2364C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527364.1:n.1523+2364C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1611,
          "endIntronDirection": "+",
          "endIntronOffset": 2364,
          "referenceAllele": "C",
          "start": 1611,
          "startIntronDirection": "+",
          "startIntronOffset": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529065.1:c.1474+2364C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527367.1:n.1474+2364C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1659,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1659,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XR_936641.1:n.1660-3C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1591,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1591,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529060.2:c.1475-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527362.1:n.1475-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3148,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 3148,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529061.2:c.1421-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527363.1:n.1421-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1651,
          "endIntronDirection": "+",
          "endIntronOffset": 2364,
          "referenceAllele": "C",
          "start": 1651,
          "startIntronDirection": "+",
          "startIntronOffset": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529062.2:c.1523+2364C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527364.1:n.1523+2364C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "endIntronDirection": "+",
          "endIntronOffset": 2364,
          "referenceAllele": "C",
          "start": 1598,
          "startIntronDirection": "+",
          "startIntronOffset": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529065.2:c.1474+2364C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527367.1:n.1474+2364C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1508,
          "endIntronDirection": "+",
          "endIntronOffset": 2364,
          "referenceAllele": "C",
          "start": 1508,
          "startIntronDirection": "+",
          "startIntronOffset": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_017028087.2:c.1411+2364C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883576.1:n.1411+2364C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1646,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1646,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XR_936641.2:n.1647-3C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1499,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1499,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "NM_030777.4:c.1412-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_110404.1:n.1412-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671005",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359271.4:c.1412-3C>T"
          },
          "RefSeq": {
            "hgvs": "NM_030777.4:c.1412-3C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352216.2:n.1412-3C>T"
          },
          "RefSeq": {
            "hgvs": "NP_110404.1:n.1412-3C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}