{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1732761745",
  "communityStandardTitle": [
    "NM_000441.2(SLC26A4):c.2048T= (p.Phe683=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060499808",
        "rs": 1060499808
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 107704344,
          "referenceAllele": "T",
          "start": 107704343
        }
      ],
      "hgvs": [
        "NC_000007.14:g.107704344T=",
        "CM000669.2:g.107704344T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 107344789,
          "referenceAllele": "T",
          "start": 107344788
        }
      ],
      "hgvs": [
        "NC_000007.13:g.107344789T=",
        "CM000669.1:g.107344789T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 107132025,
          "referenceAllele": "T",
          "start": 107132024
        }
      ],
      "hgvs": [
        "NC_000007.12:g.107132025T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 48710,
          "referenceAllele": "T",
          "start": 48709
        }
      ],
      "hgvs": [
        "NG_008489.1:g.48710T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001119"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2079,
          "referenceAllele": "T",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000644269.2:c.2048T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494017.1:p.Phe683="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767734",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644269.2:c.2048T="
          },
          "RefSeq": {
            "hgvs": "NM_000441.2:c.2048T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494017.1:p.Phe683="
          },
          "RefSeq": {
            "hgvs": "NP_000432.1:p.Phe683="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "endIntronDirection": "+",
          "endIntronOffset": 2287,
          "referenceAllele": "T",
          "start": 745,
          "startIntronDirection": "+",
          "startIntronOffset": 2286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000644846.1:c.745+2287T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2272,
          "referenceAllele": "T",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000265715.7:c.2048T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265715.3:p.Phe683="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "referenceAllele": "T",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000492030.2:n.335T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073534823",
      "coordinates": [
        {
          "allele": "T",
          "end": 2272,
          "referenceAllele": "T",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "NM_000441.1:c.2048T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000432.1:p.Phe683="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2255,
          "referenceAllele": "T",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_005250425.1:c.2048T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250482.1:p.Phe683="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2255,
          "referenceAllele": "T",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_005250425.2:c.2048T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250482.1:p.Phe683="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1973,
          "referenceAllele": "T",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_017012318.1:c.1970T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867807.1:p.Phe657="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565948"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073534823",
      "coordinates": [
        {
          "allele": "T",
          "end": 2079,
          "referenceAllele": "T",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "NM_000441.2:c.2048T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000432.1:p.Phe683="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674847",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644269.2:c.2048T="
          },
          "RefSeq": {
            "hgvs": "NM_000441.2:c.2048T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494017.1:p.Phe683="
          },
          "RefSeq": {
            "hgvs": "NP_000432.1:p.Phe683="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}