{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA457095760",
  "communityStandardTitle": [
    "NM_000441.2(SLC26A4):c.1449G>A (p.Val483=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2078523[alleleid]",
        "alleleId": 2078523,
        "preferredName": "NM_000441.2(SLC26A4):c.1449G>A (p.Val483=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2029592",
        "RCV": [
          "RCV002880900"
        ],
        "variationId": 2029592
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.107336389G>A?assembly=hg19",
        "id": "chr7:g.107336389G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771492393",
        "rs": 771492393
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-107695944-G-A?dataset=gnomad_r4",
        "id": "7-107695944-G-A",
        "variant": "7:107695944 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 107695944,
          "referenceAllele": "G",
          "start": 107695943
        }
      ],
      "hgvs": [
        "NC_000007.14:g.107695944G>A",
        "CM000669.2:g.107695944G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 107336389,
          "referenceAllele": "G",
          "start": 107336388
        }
      ],
      "hgvs": [
        "NC_000007.13:g.107336389G>A",
        "CM000669.1:g.107336389G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 107123625,
          "referenceAllele": "G",
          "start": 107123624
        }
      ],
      "hgvs": [
        "NC_000007.12:g.107123625G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40310,
          "referenceAllele": "G",
          "start": 40309
        }
      ],
      "hgvs": [
        "NG_008489.1:g.40310G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001119"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1480,
          "referenceAllele": "G",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000644269.2:c.1449G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494017.1:p.Val483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767734",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644269.2:c.1449G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000441.2:c.1449G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494017.1:p.Val483="
          },
          "RefSeq": {
            "hgvs": "NP_000432.1:p.Val483="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 160,
          "referenceAllele": "G",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000644846.1:c.160G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1673,
          "referenceAllele": "G",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000265715.7:c.1449G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265715.3:p.Val483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251803"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000460748.1:n.552G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "referenceAllele": "G",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000477350.5:n.296G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000480841.5:n.298G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 464,
          "referenceAllele": "G",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000497446.5:n.464G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825171321",
      "coordinates": [
        {
          "allele": "A",
          "end": 1673,
          "referenceAllele": "G",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "NM_000441.1:c.1449G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000432.1:p.Val483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1656,
          "referenceAllele": "G",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_005250425.1:c.1449G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250482.1:p.Val483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1656,
          "referenceAllele": "G",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_005250425.2:c.1449G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250482.1:p.Val483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1374,
          "referenceAllele": "G",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_017012318.1:c.1371G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867807.1:p.Val457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565948"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825171321",
      "coordinates": [
        {
          "allele": "A",
          "end": 1480,
          "referenceAllele": "G",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "NM_000441.2:c.1449G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000432.1:p.Val483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674847",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644269.2:c.1449G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000441.2:c.1449G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494017.1:p.Val483="
          },
          "RefSeq": {
            "hgvs": "NP_000432.1:p.Val483="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}