{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA129085694",
  "communityStandardTitle": [
    "NM_000112.4(SLC26A2):c.*2873C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=893555[alleleid]",
        "alleleId": 893555,
        "preferredName": "NM_000112.4(SLC26A2):c.*2873C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/905337",
        "RCV": [
          "RCV001153813",
          "RCV001153814",
          "RCV001153816",
          "RCV001153815",
          "RCV001156438"
        ],
        "variationId": 905337
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149364249C>T?assembly=hg19",
        "id": "chr5:g.149364249C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149984686C>T?assembly=hg38",
        "id": "chr5:g.149984686C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/114919633",
        "rs": 114919633
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149364249-C-T?dataset=gnomad_r2_1",
        "id": "5-149364249-C-T",
        "variant": "5:149364249 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149984686-C-T?dataset=gnomad_r3",
        "id": "5-149984686-C-T",
        "variant": "5:149984686 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149984686-C-T?dataset=gnomad_r4",
        "id": "5-149984686-C-T",
        "variant": "5:149984686 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 149984686,
          "referenceAllele": "C",
          "start": 149984685
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149984686C>T",
        "CM000667.2:g.149984686C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 149364249,
          "referenceAllele": "C",
          "start": 149364248
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149364249C>T",
        "CM000667.1:g.149364249C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 149344442,
          "referenceAllele": "C",
          "start": 149344441
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149344442C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25804,
          "referenceAllele": "C",
          "start": 25803
        }
      ],
      "hgvs": [
        "NG_007147.2:g.25804C>T",
        "LRG_684:g.25804C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000500"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5340,
          "referenceAllele": "C",
          "start": 5339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.5:c.*2873C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:n.*2873C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743841",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.*2873C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.*2873C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:n.*2873C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:n.*2873C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5361,
          "referenceAllele": "C",
          "start": 5360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.4:c.*2873C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:n.*2873C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 6335,
          "referenceAllele": "C",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 6334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000503336.1:c.372+6335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426053.1:n.372+6335C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5361,
          "referenceAllele": "C",
          "start": 5360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.3:c.*2873C>T",
        "LRG_684t1:c.*2873C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:n.*2873C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5231,
          "referenceAllele": "C",
          "start": 5230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "XM_017009191.2:c.*2770C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864680.1:n.*2770C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5340,
          "referenceAllele": "C",
          "start": 5339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.4:c.*2873C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:n.*2873C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.*2873C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.*2873C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:n.*2873C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:n.*2873C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}