{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041104",
  "communityStandardTitle": [
    "NM_000441.2(SLC26A4):c.619C>T (p.Gln207Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357532[alleleid]",
        "alleleId": 357532,
        "preferredName": "NM_000441.2(SLC26A4):c.619C>T (p.Gln207Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370676",
        "RCV": [
          "RCV000411641",
          "RCV002523854"
        ],
        "variationId": 370676
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.107315408C>T?assembly=hg19",
        "id": "chr7:g.107315408C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.107674963C>T?assembly=hg38",
        "id": "chr7:g.107674963C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516678",
        "rs": 1057516678
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-107315408-C-T?dataset=gnomad_r2_1",
        "id": "7-107315408-C-T",
        "variant": "7:107315408 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-107674963-C-T?dataset=gnomad_r4",
        "id": "7-107674963-C-T",
        "variant": "7:107674963 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 107674963,
          "referenceAllele": "C",
          "start": 107674962
        }
      ],
      "hgvs": [
        "NC_000007.14:g.107674963C>T",
        "CM000669.2:g.107674963C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 107315408,
          "referenceAllele": "C",
          "start": 107315407
        }
      ],
      "hgvs": [
        "NC_000007.13:g.107315408C>T",
        "CM000669.1:g.107315408C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 107102644,
          "referenceAllele": "C",
          "start": 107102643
        }
      ],
      "hgvs": [
        "NC_000007.12:g.107102644C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19329,
          "referenceAllele": "C",
          "start": 19328
        }
      ],
      "hgvs": [
        "NG_008489.1:g.19329C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001119"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000644269.2:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494017.1:p.Gln207Ter",
        "hgvsWellDefined": "ENSP00000494017.1:p.Gln207_Ser780delinsIleGlyPheIleValArgTyrLeuAlaAspProLeuValGlyGlyPheThrThrAlaAlaAlaPheGlnValLeuValSerGlnLeuLysIleValLeuAsnValSerThrLysAsnTyrAsnGlyValLeuSerIleIleTyrThrLeuValGluIlePheGlnAsnIleGlyAspThrAsnLeuAlaAspPheThrAlaGlyLeuLeuThrIleValValCysMetAlaValLysGluLeuAsnAspArgPheArgHisLysIleProValProIleProIleGluValIleValThrIleIleAlaThrAlaIleSerTyrGlyAlaAsnLeuGluLysAsnTyrAsnAlaGlyIleValLysSerIleProArgGlyPheLeuProProGluLeuProProValSerLeuPheSerGluMetLeuAlaAlaSerPheSerIleAlaValValAlaTyrAlaIleAlaValSerValGlyLysValTyrAlaThrLysTyrAspTyrThrIleAspGlyAsnGlnGluPheIleAlaPheGlyIleSerAsnIlePheSerGlyPhePheSerCysPheValAlaThrThrAlaLeuSerArgThrAlaValGlnGluSerThrGlyGlyLysThrGlnValAlaGlyIleIleSerAlaAlaIleValMetIleAlaIleLeuAlaLeuGlyLysLeuLeuGluProLeuGlnLysSerValLeuAlaAlaValValIleAlaAsnLeuLysGlyMetPheMetGlnLeuCysAspIleProArgLeuTrpArgGlnAsnLysIleAspAlaValIleTrpValPheThrCysIleValSerIleIleLeuGlyLeuAspLeuGlyLeuLeuAlaGlyLeuIlePheGlyLeuLeuThrValValLeuArgValGlnPheProSerTrpAsnGlyLeuGlySerIleProSerThrAspIleTyrLysSerThrLysAsnTyrLysAsnIleGluGluProGlnGlyValLysIleLeuArgPheSerSerProIlePheTyrGlyAsnValAspGlyPheLysLysCysIleLysSerThrValGlyPheAspAlaIleArgValTyrAsnLysArgLeuLysAlaLeuArgLysIleGlnLysLeuIleLysSerGlyGlnLeuArgAlaThrLysAsnGlyIleIleSerAspAlaValSerThrAsnAsnAlaPheGluProAspGluAspIleGluAspLeuGluGluLeuAspIleProThrLysGluIleGluIleGlnValAspTrpAsnSerGluLeuProValLysValAsnValProLysValProIleHisSerLeuValLeuAspCysGlyAlaIleSerPheLeuAspValValGlyValArgSerLeuArgValIleValLysGluPheGlnArgIleAspValAsnValTyrPheAlaSerLeuGlnAspTyrValIleGluLysLeuGluGlnCysGlyPhePheAspAspAsnIleArgLysAspThrPhePheLeuThrValHisAspAlaIleLeuTyrLeuGlnAsnGlnValLysSerGlnGluGlyGlnGlySerIleLeuGluThrIleThrLeuIleGlnAspCysLysAspThrLeuGluLeuIleGluThrGluLeuThrGluGluGluLeuAspValGlnAspGluAlaMetArgThrLeuAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767734",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644269.2:c.619C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000441.2:c.619C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494017.1:p.Gln207Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000432.1:p.Gln207Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 843,
          "referenceAllele": "C",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000265715.7:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265715.3:p.Gln207Ter",
        "hgvsWellDefined": "ENSP00000265715.3:p.Gln207_Ser780delinsIleGlyPheIleValArgTyrLeuAlaAspProLeuValGlyGlyPheThrThrAlaAlaAlaPheGlnValLeuValSerGlnLeuLysIleValLeuAsnValSerThrLysAsnTyrAsnGlyValLeuSerIleIleTyrThrLeuValGluIlePheGlnAsnIleGlyAspThrAsnLeuAlaAspPheThrAlaGlyLeuLeuThrIleValValCysMetAlaValLysGluLeuAsnAspArgPheArgHisLysIleProValProIleProIleGluValIleValThrIleIleAlaThrAlaIleSerTyrGlyAlaAsnLeuGluLysAsnTyrAsnAlaGlyIleValLysSerIleProArgGlyPheLeuProProGluLeuProProValSerLeuPheSerGluMetLeuAlaAlaSerPheSerIleAlaValValAlaTyrAlaIleAlaValSerValGlyLysValTyrAlaThrLysTyrAspTyrThrIleAspGlyAsnGlnGluPheIleAlaPheGlyIleSerAsnIlePheSerGlyPhePheSerCysPheValAlaThrThrAlaLeuSerArgThrAlaValGlnGluSerThrGlyGlyLysThrGlnValAlaGlyIleIleSerAlaAlaIleValMetIleAlaIleLeuAlaLeuGlyLysLeuLeuGluProLeuGlnLysSerValLeuAlaAlaValValIleAlaAsnLeuLysGlyMetPheMetGlnLeuCysAspIleProArgLeuTrpArgGlnAsnLysIleAspAlaValIleTrpValPheThrCysIleValSerIleIleLeuGlyLeuAspLeuGlyLeuLeuAlaGlyLeuIlePheGlyLeuLeuThrValValLeuArgValGlnPheProSerTrpAsnGlyLeuGlySerIleProSerThrAspIleTyrLysSerThrLysAsnTyrLysAsnIleGluGluProGlnGlyValLysIleLeuArgPheSerSerProIlePheTyrGlyAsnValAspGlyPheLysLysCysIleLysSerThrValGlyPheAspAlaIleArgValTyrAsnLysArgLeuLysAlaLeuArgLysIleGlnLysLeuIleLysSerGlyGlnLeuArgAlaThrLysAsnGlyIleIleSerAspAlaValSerThrAsnAsnAlaPheGluProAspGluAspIleGluAspLeuGluGluLeuAspIleProThrLysGluIleGluIleGlnValAspTrpAsnSerGluLeuProValLysValAsnValProLysValProIleHisSerLeuValLeuAspCysGlyAlaIleSerPheLeuAspValValGlyValArgSerLeuArgValIleValLysGluPheGlnArgIleAspValAsnValTyrPheAlaSerLeuGlnAspTyrValIleGluLysLeuGluGlnCysGlyPhePheAspAspAsnIleArgLysAspThrPhePheLeuThrValHisAspAlaIleLeuTyrLeuGlnAsnGlnValLysSerGlnGluGlyGlnGlySerIleLeuGluThrIleThrLeuIleGlnAspCysLysAspThrLeuGluLeuIleGluThrGluLeuThrGluGluGluLeuAspValGlnAspGluAlaMetArgThrLeuAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645387276",
      "coordinates": [
        {
          "allele": "T",
          "end": 843,
          "referenceAllele": "C",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "NM_000441.1:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000432.1:p.Gln207Ter",
        "hgvsWellDefined": "NP_000432.1:p.Gln207_Ser780delinsIleGlyPheIleValArgTyrLeuAlaAspProLeuValGlyGlyPheThrThrAlaAlaAlaPheGlnValLeuValSerGlnLeuLysIleValLeuAsnValSerThrLysAsnTyrAsnGlyValLeuSerIleIleTyrThrLeuValGluIlePheGlnAsnIleGlyAspThrAsnLeuAlaAspPheThrAlaGlyLeuLeuThrIleValValCysMetAlaValLysGluLeuAsnAspArgPheArgHisLysIleProValProIleProIleGluValIleValThrIleIleAlaThrAlaIleSerTyrGlyAlaAsnLeuGluLysAsnTyrAsnAlaGlyIleValLysSerIleProArgGlyPheLeuProProGluLeuProProValSerLeuPheSerGluMetLeuAlaAlaSerPheSerIleAlaValValAlaTyrAlaIleAlaValSerValGlyLysValTyrAlaThrLysTyrAspTyrThrIleAspGlyAsnGlnGluPheIleAlaPheGlyIleSerAsnIlePheSerGlyPhePheSerCysPheValAlaThrThrAlaLeuSerArgThrAlaValGlnGluSerThrGlyGlyLysThrGlnValAlaGlyIleIleSerAlaAlaIleValMetIleAlaIleLeuAlaLeuGlyLysLeuLeuGluProLeuGlnLysSerValLeuAlaAlaValValIleAlaAsnLeuLysGlyMetPheMetGlnLeuCysAspIleProArgLeuTrpArgGlnAsnLysIleAspAlaValIleTrpValPheThrCysIleValSerIleIleLeuGlyLeuAspLeuGlyLeuLeuAlaGlyLeuIlePheGlyLeuLeuThrValValLeuArgValGlnPheProSerTrpAsnGlyLeuGlySerIleProSerThrAspIleTyrLysSerThrLysAsnTyrLysAsnIleGluGluProGlnGlyValLysIleLeuArgPheSerSerProIlePheTyrGlyAsnValAspGlyPheLysLysCysIleLysSerThrValGlyPheAspAlaIleArgValTyrAsnLysArgLeuLysAlaLeuArgLysIleGlnLysLeuIleLysSerGlyGlnLeuArgAlaThrLysAsnGlyIleIleSerAspAlaValSerThrAsnAsnAlaPheGluProAspGluAspIleGluAspLeuGluGluLeuAspIleProThrLysGluIleGluIleGlnValAspTrpAsnSerGluLeuProValLysValAsnValProLysValProIleHisSerLeuValLeuAspCysGlyAlaIleSerPheLeuAspValValGlyValArgSerLeuArgValIleValLysGluPheGlnArgIleAspValAsnValTyrPheAlaSerLeuGlnAspTyrValIleGluLysLeuGluGlnCysGlyPhePheAspAspAsnIleArgLysAspThrPhePheLeuThrValHisAspAlaIleLeuTyrLeuGlnAsnGlnValLysSerGlnGluGlyGlnGlySerIleLeuGluThrIleThrLeuIleGlnAspCysLysAspThrLeuGluLeuIleGluThrGluLeuThrGluGluGluLeuAspValGlnAspGluAlaMetArgThrLeuAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_005250425.1:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250482.1:p.Gln207Ter",
        "hgvsWellDefined": "XP_005250482.1:p.Gln207_Ser780delinsIleGlyPheIleValArgTyrLeuAlaAspProLeuValGlyGlyPheThrThrAlaAlaAlaPheGlnValLeuValSerGlnLeuLysIleValLeuAsnValSerThrLysAsnTyrAsnGlyValLeuSerIleIleTyrThrLeuValGluIlePheGlnAsnIleGlyAspThrAsnLeuAlaAspPheThrAlaGlyLeuLeuThrIleValValCysMetAlaValLysGluLeuAsnAspArgPheArgHisLysIleProValProIleProIleGluValIleValThrIleIleAlaThrAlaIleSerTyrGlyAlaAsnLeuGluLysAsnTyrAsnAlaGlyIleValLysSerIleProArgGlyPheLeuProProGluLeuProProValSerLeuPheSerGluMetLeuAlaAlaSerPheSerIleAlaValValAlaTyrAlaIleAlaValSerValGlyLysValTyrAlaThrLysTyrAspTyrThrIleAspGlyAsnGlnGluPheIleAlaPheGlyIleSerAsnIlePheSerGlyPhePheSerCysPheValAlaThrThrAlaLeuSerArgThrAlaValGlnGluSerThrGlyGlyLysThrGlnValAlaGlyIleIleSerAlaAlaIleValMetIleAlaIleLeuAlaLeuGlyLysLeuLeuGluProLeuGlnLysSerValLeuAlaAlaValValIleAlaAsnLeuLysGlyMetPheMetGlnLeuCysAspIleProArgLeuTrpArgGlnAsnLysIleAspAlaValIleTrpValPheThrCysIleValSerIleIleLeuGlyLeuAspLeuGlyLeuLeuAlaGlyLeuIlePheGlyLeuLeuThrValValLeuArgValGlnPheProSerTrpAsnGlyLeuGlySerIleProSerThrAspIleTyrLysSerThrLysAsnTyrLysAsnIleGluGluProGlnGlyValLysIleLeuArgPheSerSerProIlePheTyrGlyAsnValAspGlyPheLysLysCysIleLysSerThrValGlyPheAspAlaIleArgValTyrAsnLysArgLeuLysAlaLeuArgLysIleGlnLysLeuIleLysSerGlyGlnLeuArgAlaThrLysAsnGlyIleIleSerAspAlaValSerThrAsnAsnAlaPheGluProAspGluAspIleGluAspLeuGluGluLeuAspIleProThrLysGluIleGluIleGlnValAspTrpAsnSerGluLeuProValLysValAsnValProLysValProIleHisSerLeuValLeuAspCysGlyAlaIleSerPheLeuAspValValGlyValArgSerLeuArgValIleValLysGluPheGlnArgIleAspValAsnValTyrPheAlaSerLeuGlnAspTyrValIleGluLysLeuGluGlnCysGlyPhePheAspAspAsnIleArgLysAspThrPhePheLeuThrValHisAspAlaIleLeuTyrLeuGlnAsnGlnValLysSerGlnGluGlyGlnGlySerIleLeuGluThrIleThrLeuIleGlnAspCysLysAspThrLeuGluLeuIleGluThrGluLeuThrGluGluGluLeuAspValGlnAspGluAlaMetArgThrLeuAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_006716025.2:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716088.1:p.Gln207Ter",
        "hgvsWellDefined": "XP_006716088.1:p.Gln207_Phe423delinsIleGlyPheIleValArgTyrLeuAlaAspProLeuValGlyGlyPheThrThrAlaAlaAlaPheGlnValLeuValSerGlnLeuLysIleValLeuAsnValSerThrLysAsnTyrAsnGlyValLeuSerIleIleTyrThrLeuValGluIlePheGlnAsnIleGlyAspThrAsnLeuAlaAspPheThrAlaGlyLeuLeuThrIleValValCysMetAlaValLysGluLeuAsnAspArgPheArgHisLysIleProValProIleProIleGluValIleValThrIleIleAlaThrAlaIleSerTyrGlyAlaAsnLeuGluLysAsnTyrAsnAlaGlyIleValLysSerIleProArgGlyPheLeuProProGluLeuProProValSerLeuPheSerGluMetLeuAlaAlaSerPheSerIleAlaValValAlaTyrAlaIleAlaValSerValGlyLysValTyrAlaThrLysTyrAspTyrThrIleAspGlyAsnGlnGluPheIleAlaPheGlyIleSerAsnIlePheSerGlyPhePheSerCysPheValAlaThrThrAlaLeuSerArgThrAlaValGlnGluSerThrGlyGlyLysThrGlnSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_005250425.2:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250482.1:p.Gln207Ter",
        "hgvsWellDefined": "XP_005250482.1:p.Gln207_Ser780delinsIleGlyPheIleValArgTyrLeuAlaAspProLeuValGlyGlyPheThrThrAlaAlaAlaPheGlnValLeuValSerGlnLeuLysIleValLeuAsnValSerThrLysAsnTyrAsnGlyValLeuSerIleIleTyrThrLeuValGluIlePheGlnAsnIleGlyAspThrAsnLeuAlaAspPheThrAlaGlyLeuLeuThrIleValValCysMetAlaValLysGluLeuAsnAspArgPheArgHisLysIleProValProIleProIleGluValIleValThrIleIleAlaThrAlaIleSerTyrGlyAlaAsnLeuGluLysAsnTyrAsnAlaGlyIleValLysSerIleProArgGlyPheLeuProProGluLeuProProValSerLeuPheSerGluMetLeuAlaAlaSerPheSerIleAlaValValAlaTyrAlaIleAlaValSerValGlyLysValTyrAlaThrLysTyrAspTyrThrIleAspGlyAsnGlnGluPheIleAlaPheGlyIleSerAsnIlePheSerGlyPhePheSerCysPheValAlaThrThrAlaLeuSerArgThrAlaValGlnGluSerThrGlyGlyLysThrGlnValAlaGlyIleIleSerAlaAlaIleValMetIleAlaIleLeuAlaLeuGlyLysLeuLeuGluProLeuGlnLysSerValLeuAlaAlaValValIleAlaAsnLeuLysGlyMetPheMetGlnLeuCysAspIleProArgLeuTrpArgGlnAsnLysIleAspAlaValIleTrpValPheThrCysIleValSerIleIleLeuGlyLeuAspLeuGlyLeuLeuAlaGlyLeuIlePheGlyLeuLeuThrValValLeuArgValGlnPheProSerTrpAsnGlyLeuGlySerIleProSerThrAspIleTyrLysSerThrLysAsnTyrLysAsnIleGluGluProGlnGlyValLysIleLeuArgPheSerSerProIlePheTyrGlyAsnValAspGlyPheLysLysCysIleLysSerThrValGlyPheAspAlaIleArgValTyrAsnLysArgLeuLysAlaLeuArgLysIleGlnLysLeuIleLysSerGlyGlnLeuArgAlaThrLysAsnGlyIleIleSerAspAlaValSerThrAsnAsnAlaPheGluProAspGluAspIleGluAspLeuGluGluLeuAspIleProThrLysGluIleGluIleGlnValAspTrpAsnSerGluLeuProValLysValAsnValProLysValProIleHisSerLeuValLeuAspCysGlyAlaIleSerPheLeuAspValValGlyValArgSerLeuArgValIleValLysGluPheGlnArgIleAspValAsnValTyrPheAlaSerLeuGlnAspTyrValIleGluLysLeuGluGlnCysGlyPhePheAspAspAsnIleArgLysAspThrPhePheLeuThrValHisAspAlaIleLeuTyrLeuGlnAsnGlnValLysSerGlnGluGlyGlnGlySerIleLeuGluThrIleThrLeuIleGlnAspCysLysAspThrLeuGluLeuIleGluThrGluLeuThrGluGluGluLeuAspValGlnAspGluAlaMetArgThrLeuAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_006716025.3:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716088.1:p.Gln207Ter",
        "hgvsWellDefined": "XP_006716088.1:p.Gln207_Phe423delinsIleGlyPheIleValArgTyrLeuAlaAspProLeuValGlyGlyPheThrThrAlaAlaAlaPheGlnValLeuValSerGlnLeuLysIleValLeuAsnValSerThrLysAsnTyrAsnGlyValLeuSerIleIleTyrThrLeuValGluIlePheGlnAsnIleGlyAspThrAsnLeuAlaAspPheThrAlaGlyLeuLeuThrIleValValCysMetAlaValLysGluLeuAsnAspArgPheArgHisLysIleProValProIleProIleGluValIleValThrIleIleAlaThrAlaIleSerTyrGlyAlaAsnLeuGluLysAsnTyrAsnAlaGlyIleValLysSerIleProArgGlyPheLeuProProGluLeuProProValSerLeuPheSerGluMetLeuAlaAlaSerPheSerIleAlaValValAlaTyrAlaIleAlaValSerValGlyLysValTyrAlaThrLysTyrAspTyrThrIleAspGlyAsnGlnGluPheIleAlaPheGlyIleSerAsnIlePheSerGlyPhePheSerCysPheValAlaThrThrAlaLeuSerArgThrAlaValGlnGluSerThrGlyGlyLysThrGlnSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_017012318.1:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867807.1:p.Gln207Ter",
        "hgvsWellDefined": "XP_016867807.1:p.Gln207_Ser754delinsIleGlyPheIleValArgTyrLeuAlaAspProLeuValGlyGlyPheThrThrAlaAlaAlaPheGlnValLeuValSerGlnLeuLysIleValLeuAsnValSerThrLysAsnTyrAsnGlyValLeuSerIleIleTyrThrLeuValGluIlePheGlnAsnIleGlyAspThrAsnLeuAlaAspPheThrAlaGlyLeuLeuThrIleValValCysMetAlaValLysGluLeuAsnAspArgPheArgHisLysIleProValProIleProIleGluValIleValThrIleIleAlaThrAlaIleSerTyrGlyAlaAsnLeuGluLysAsnTyrAsnAlaGlyIleValLysSerIleProArgGlyPheLeuProProGluLeuProProValSerLeuPheSerGluMetLeuAlaAlaSerPheSerIleAlaValValAlaTyrAlaIleAlaValSerValGlyLysValTyrAlaThrLysTyrAspTyrThrIleAspGlyAsnGlnGluPheIleAlaPheGlyIleSerAsnIlePheSerGlyPhePheSerCysPheValAlaThrThrAlaLeuSerArgThrAlaValGlnGluSerThrGlyGlyLysThrGlnSerValLeuAlaAlaValValIleAlaAsnLeuLysGlyMetPheMetGlnLeuCysAspIleProArgLeuTrpArgGlnAsnLysIleAspAlaValIleTrpValPheThrCysIleValSerIleIleLeuGlyLeuAspLeuGlyLeuLeuAlaGlyLeuIlePheGlyLeuLeuThrValValLeuArgValGlnPheProSerTrpAsnGlyLeuGlySerIleProSerThrAspIleTyrLysSerThrLysAsnTyrLysAsnIleGluGluProGlnGlyValLysIleLeuArgPheSerSerProIlePheTyrGlyAsnValAspGlyPheLysLysCysIleLysSerThrValGlyPheAspAlaIleArgValTyrAsnLysArgLeuLysAlaLeuArgLysIleGlnLysLeuIleLysSerGlyGlnLeuArgAlaThrLysAsnGlyIleIleSerAspAlaValSerThrAsnAsnAlaPheGluProAspGluAspIleGluAspLeuGluGluLeuAspIleProThrLysGluIleGluIleGlnValAspTrpAsnSerGluLeuProValLysValAsnValProLysValProIleHisSerLeuValLeuAspCysGlyAlaIleSerPheLeuAspValValGlyValArgSerLeuArgValIleValLysGluPheGlnArgIleAspValAsnValTyrPheAlaSerLeuGlnAspTyrValIleGluLysLeuGluGlnCysGlyPhePheAspAspAsnIleArgLysAspThrPhePheLeuThrValHisAspAlaIleLeuTyrLeuGlnAsnGlnValLysSerGlnGluGlyGlnGlySerIleLeuGluThrIleThrLeuIleGlnAspCysLysAspThrLeuGluLeuIleGluThrGluLeuThrGluGluGluLeuAspValGlnAspGluAlaMetArgThrLeuAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565948"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645387276",
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "NM_000441.2:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000432.1:p.Gln207Ter",
        "hgvsWellDefined": "NP_000432.1:p.Gln207_Ser780delinsIleGlyPheIleValArgTyrLeuAlaAspProLeuValGlyGlyPheThrThrAlaAlaAlaPheGlnValLeuValSerGlnLeuLysIleValLeuAsnValSerThrLysAsnTyrAsnGlyValLeuSerIleIleTyrThrLeuValGluIlePheGlnAsnIleGlyAspThrAsnLeuAlaAspPheThrAlaGlyLeuLeuThrIleValValCysMetAlaValLysGluLeuAsnAspArgPheArgHisLysIleProValProIleProIleGluValIleValThrIleIleAlaThrAlaIleSerTyrGlyAlaAsnLeuGluLysAsnTyrAsnAlaGlyIleValLysSerIleProArgGlyPheLeuProProGluLeuProProValSerLeuPheSerGluMetLeuAlaAlaSerPheSerIleAlaValValAlaTyrAlaIleAlaValSerValGlyLysValTyrAlaThrLysTyrAspTyrThrIleAspGlyAsnGlnGluPheIleAlaPheGlyIleSerAsnIlePheSerGlyPhePheSerCysPheValAlaThrThrAlaLeuSerArgThrAlaValGlnGluSerThrGlyGlyLysThrGlnValAlaGlyIleIleSerAlaAlaIleValMetIleAlaIleLeuAlaLeuGlyLysLeuLeuGluProLeuGlnLysSerValLeuAlaAlaValValIleAlaAsnLeuLysGlyMetPheMetGlnLeuCysAspIleProArgLeuTrpArgGlnAsnLysIleAspAlaValIleTrpValPheThrCysIleValSerIleIleLeuGlyLeuAspLeuGlyLeuLeuAlaGlyLeuIlePheGlyLeuLeuThrValValLeuArgValGlnPheProSerTrpAsnGlyLeuGlySerIleProSerThrAspIleTyrLysSerThrLysAsnTyrLysAsnIleGluGluProGlnGlyValLysIleLeuArgPheSerSerProIlePheTyrGlyAsnValAspGlyPheLysLysCysIleLysSerThrValGlyPheAspAlaIleArgValTyrAsnLysArgLeuLysAlaLeuArgLysIleGlnLysLeuIleLysSerGlyGlnLeuArgAlaThrLysAsnGlyIleIleSerAspAlaValSerThrAsnAsnAlaPheGluProAspGluAspIleGluAspLeuGluGluLeuAspIleProThrLysGluIleGluIleGlnValAspTrpAsnSerGluLeuProValLysValAsnValProLysValProIleHisSerLeuValLeuAspCysGlyAlaIleSerPheLeuAspValValGlyValArgSerLeuArgValIleValLysGluPheGlnArgIleAspValAsnValTyrPheAlaSerLeuGlnAspTyrValIleGluLysLeuGluGlnCysGlyPhePheAspAspAsnIleArgLysAspThrPhePheLeuThrValHisAspAlaIleLeuTyrLeuGlnAsnGlnValLysSerGlnGluGlyGlnGlySerIleLeuGluThrIleThrLeuIleGlnAspCysLysAspThrLeuGluLeuIleGluThrGluLeuThrGluGluGluLeuAspValGlnAspGluAlaMetArgThrLeuAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674847",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644269.2:c.619C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000441.2:c.619C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494017.1:p.Gln207Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000432.1:p.Gln207Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}