{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA261398",
  "communityStandardTitle": [
    "NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19859[alleleid]",
        "alleleId": 19859,
        "preferredName": "NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4820",
        "RCV": [
          "RCV000005089",
          "RCV000036425",
          "RCV000520205",
          "RCV001095693",
          "RCV002482829",
          "RCV004528076"
        ],
        "variationId": 4820
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-107330570-A-G",
        "id": "7-107330570-A-G",
        "variant": "7:107330570 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.107330570A>G?assembly=hg19",
        "id": "chr7:g.107330570A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.107690125A>G?assembly=hg38",
        "id": "chr7:g.107690125A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033244",
        "rs": 111033244
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-107330570-A-G?dataset=gnomad_r2_1",
        "id": "7-107330570-A-G",
        "variant": "7:107330570 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-107690125-A-G?dataset=gnomad_r3",
        "id": "7-107690125-A-G",
        "variant": "7:107690125 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-107690125-A-G?dataset=gnomad_r4",
        "id": "7-107690125-A-G",
        "variant": "7:107690125 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 107690125,
          "referenceAllele": "A",
          "start": 107690124
        }
      ],
      "hgvs": [
        "NC_000007.14:g.107690125A>G",
        "CM000669.2:g.107690125A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 107330570,
          "referenceAllele": "A",
          "start": 107330569
        }
      ],
      "hgvs": [
        "NC_000007.13:g.107330570A>G",
        "CM000669.1:g.107330570A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 107117806,
          "referenceAllele": "A",
          "start": 107117805
        }
      ],
      "hgvs": [
        "NC_000007.12:g.107117806A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34491,
          "referenceAllele": "A",
          "start": 34490
        }
      ],
      "hgvs": [
        "NG_008489.1:g.34491A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001119"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1182,
          "referenceAllele": "A",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000644269.2:c.1151A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494017.1:p.Glu384Gly",
        "hgvsWellDefined": "ENSP00000494017.1:p.Glu384Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767734",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644269.2:c.1151A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000441.2:c.1151A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494017.1:p.Glu384Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000432.1:p.Glu384Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1375,
          "referenceAllele": "A",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000265715.7:c.1151A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265715.3:p.Glu384Gly",
        "hgvsWellDefined": "ENSP00000265715.3:p.Glu384Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109333",
      "coordinates": [
        {
          "allele": "G",
          "end": 1375,
          "referenceAllele": "A",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "NM_000441.1:c.1151A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000432.1:p.Glu384Gly",
        "hgvsWellDefined": "NP_000432.1:p.Glu384Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1358,
          "referenceAllele": "A",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_005250425.1:c.1151A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250482.1:p.Glu384Gly",
        "hgvsWellDefined": "XP_005250482.1:p.Glu384Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1154,
          "referenceAllele": "A",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_006716025.2:c.1151A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716088.1:p.Glu384Gly",
        "hgvsWellDefined": "XP_006716088.1:p.Glu384Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1358,
          "referenceAllele": "A",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_005250425.2:c.1151A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250482.1:p.Glu384Gly",
        "hgvsWellDefined": "XP_005250482.1:p.Glu384Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1154,
          "referenceAllele": "A",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_006716025.3:c.1151A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716088.1:p.Glu384Gly",
        "hgvsWellDefined": "XP_006716088.1:p.Glu384Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1154,
          "referenceAllele": "A",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_017012318.1:c.1151A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867807.1:p.Glu384Gly",
        "hgvsWellDefined": "XP_016867807.1:p.Glu384Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565948"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109333",
      "coordinates": [
        {
          "allele": "G",
          "end": 1182,
          "referenceAllele": "A",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "NM_000441.2:c.1151A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000432.1:p.Glu384Gly",
        "hgvsWellDefined": "NP_000432.1:p.Glu384Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674847",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644269.2:c.1151A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000441.2:c.1151A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494017.1:p.Glu384Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000432.1:p.Glu384Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}