{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA361703852",
  "communityStandardTitle": [
    "NM_000112.4(SLC26A2):c.47C>A (p.Ser16Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149357262C>A?assembly=hg19",
        "id": "chr5:g.149357262C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149977699C>A?assembly=hg38",
        "id": "chr5:g.149977699C>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 149977699,
          "referenceAllele": "C",
          "start": 149977698
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149977699C>A",
        "CM000667.2:g.149977699C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 149357262,
          "referenceAllele": "C",
          "start": 149357261
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149357262C>A",
        "CM000667.1:g.149357262C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 149337455,
          "referenceAllele": "C",
          "start": 149337454
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149337455C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18817,
          "referenceAllele": "C",
          "start": 18816
        }
      ],
      "hgvs": [
        "NG_007147.2:g.18817C>A",
        "LRG_684:g.18817C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000500"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000690410.1:n.279C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "referenceAllele": "C",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.5:c.47C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.Ser16Ter",
        "hgvsWellDefined": "ENSP00000286298.4:p.Ser16_Asp739delinsAlaGluGlyAsnAspSerTyrProSerGlyIleHisLeuGluLeuGlnArgGluSerSerThrAspPheLysGlnPheGluThrAsnAspGlnCysArgProTyrHisArgIleLeuIleGluArgGlnGluLysSerAspThrAsnPheLysGluPheValIleLysLysLeuGlnLysAsnCysGlnCysSerProAlaLysAlaLysAsnMetIleLeuGlyPheLeuProValLeuGlnTrpLeuProLysTyrAspLeuLysLysAsnIleLeuGlyAspValMetSerGlyLeuIleValGlyIleLeuLeuValProGlnSerIleAlaTyrSerLeuLeuAlaGlyGlnGluProValTyrGlyLeuTyrThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743841",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.47C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.47C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Ser16Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Ser16Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 315,
          "referenceAllele": "C",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.4:c.47C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.Ser16Ter",
        "hgvsWellDefined": "ENSP00000286298.4:p.Ser16_Asp739delinsAlaGluGlyAsnAspSerTyrProSerGlyIleHisLeuGluLeuGlnArgGluSerSerThrAspPheLysGlnPheGluThrAsnAspGlnCysArgProTyrHisArgIleLeuIleGluArgGlnGluLysSerAspThrAsnPheLysGluPheValIleLysLysLeuGlnLysAsnCysGlnCysSerProAlaLysAlaLysAsnMetIleLeuGlyPheLeuProValLeuGlnTrpLeuProLysTyrAspLeuLysLysAsnIleLeuGlyAspValMetSerGlyLeuIleValGlyIleLeuLeuValProGlnSerIleAlaTyrSerLeuLeuAlaGlyGlnGluProValTyrGlyLeuTyrThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000433184.1:c.47C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405496.1:p.Ser16Ter",
        "hgvsWellDefined": "ENSP00000405496.1:p.Ser16Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA263268",
      "coordinates": [
        {
          "allele": "A",
          "end": 315,
          "referenceAllele": "C",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.3:c.47C>A",
        "LRG_684t1:c.47C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Ser16Ter",
        "hgvsWellDefined": "NP_000103.2:p.Ser16_Asp739delinsAlaGluGlyAsnAspSerTyrProSerGlyIleHisLeuGluLeuGlnArgGluSerSerThrAspPheLysGlnPheGluThrAsnAspGlnCysArgProTyrHisArgIleLeuIleGluArgGlnGluLysSerAspThrAsnPheLysGluPheValIleLysLysLeuGlnLysAsnCysGlnCysSerProAlaLysAlaLysAsnMetIleLeuGlyPheLeuProValLeuGlnTrpLeuProLysTyrAspLeuLysLysAsnIleLeuGlyAspValMetSerGlyLeuIleValGlyIleLeuLeuValProGlnSerIleAlaTyrSerLeuLeuAlaGlyGlnGluProValTyrGlyLeuTyrThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "referenceAllele": "C",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "XM_017009191.2:c.47C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864680.1:p.Ser16Ter",
        "hgvsWellDefined": "XP_016864680.1:p.Ser16_Asp739delinsAlaGluGlyAsnAspSerTyrProSerGlyIleHisLeuGluLeuGlnArgGluSerSerThrAspPheLysGlnPheGluThrAsnAspGlnCysArgProTyrHisArgIleLeuIleGluArgGlnGluLysSerAspThrAsnPheLysGluPheValIleLysLysLeuGlnLysAsnCysGlnCysSerProAlaLysAlaLysAsnMetIleLeuGlyPheLeuProValLeuGlnTrpLeuProLysTyrAspLeuLysLysAsnIleLeuGlyAspValMetSerGlyLeuIleValGlyIleLeuLeuValProGlnSerIleAlaTyrSerLeuLeuAlaGlyGlnGluProValTyrGlyLeuTyrThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA263268",
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "referenceAllele": "C",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.4:c.47C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Ser16Ter",
        "hgvsWellDefined": "NP_000103.2:p.Ser16_Asp739delinsAlaGluGlyAsnAspSerTyrProSerGlyIleHisLeuGluLeuGlnArgGluSerSerThrAspPheLysGlnPheGluThrAsnAspGlnCysArgProTyrHisArgIleLeuIleGluArgGlnGluLysSerAspThrAsnPheLysGluPheValIleLysLysLeuGlnLysAsnCysGlnCysSerProAlaLysAlaLysAsnMetIleLeuGlyPheLeuProValLeuGlnTrpLeuProLysTyrAspLeuLysLysAsnIleLeuGlyAspValMetSerGlyLeuIleValGlyIleLeuLeuValProGlnSerIleAlaTyrSerLeuLeuAlaGlyGlnGluProValTyrGlyLeuTyrThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.47C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.47C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Ser16Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Ser16Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}