{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1732742042",
  "communityStandardTitle": [
    "NM_000441.2(SLC26A4):c.1001+1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338849",
        "rs": 80338849
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 107683538,
          "referenceAllele": "G",
          "start": 107683537
        }
      ],
      "hgvs": [
        "NC_000007.14:g.107683538G=",
        "CM000669.2:g.107683538G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 107323983,
          "referenceAllele": "G",
          "start": 107323982
        }
      ],
      "hgvs": [
        "NC_000007.13:g.107323983G=",
        "CM000669.1:g.107323983G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 107111219,
          "referenceAllele": "G",
          "start": 107111218
        }
      ],
      "hgvs": [
        "NC_000007.12:g.107111219G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 27904,
          "referenceAllele": "G",
          "start": 27903
        }
      ],
      "hgvs": [
        "NG_008489.1:g.27904G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001119"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1032,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000644269.2:c.1001+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494017.1:n.1001+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767734",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644269.2:c.1001+1G="
          },
          "RefSeq": {
            "hgvs": "NM_000441.2:c.1001+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494017.1:n.1001+1G="
          },
          "RefSeq": {
            "hgvs": "NP_000432.1:n.1001+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1225,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1225,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000265715.7:c.1001+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265715.3:n.1001+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251803"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1225,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1225,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "NM_000441.1:c.1001+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000432.1:n.1001+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1208,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1208,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_005250425.1:c.1001+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250482.1:n.1001+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1004,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1004,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_006716025.2:c.1001+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716088.1:n.1001+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1208,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1208,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_005250425.2:c.1001+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250482.1:n.1001+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1004,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1004,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_006716025.3:c.1001+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716088.1:n.1001+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1004,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1004,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_017012318.1:c.1001+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867807.1:n.1001+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1032,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "NM_000441.2:c.1001+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000432.1:n.1001+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674847",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644269.2:c.1001+1G="
          },
          "RefSeq": {
            "hgvs": "NM_000441.2:c.1001+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494017.1:n.1001+1G="
          },
          "RefSeq": {
            "hgvs": "NP_000432.1:n.1001+1G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}