{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340450",
  "communityStandardTitle": [
    "NM_004211.5(SLC6A5):c.1131C>A (p.Tyr377Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20800[alleleid]",
        "alleleId": 20800,
        "preferredName": "NM_004211.5(SLC6A5):c.1131C>A (p.Tyr377Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5761",
        "RCV": [
          "RCV000006117"
        ],
        "variationId": 5761
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-20639301-C-A",
        "id": "11-20639301-C-A",
        "variant": "11:20639301 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.20639301C>A?assembly=hg19",
        "id": "chr11:g.20639301C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.20617755C>A?assembly=hg38",
        "id": "chr11:g.20617755C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908493",
        "rs": 121908493
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-20639301-C-A?dataset=gnomad_r2_1",
        "id": "11-20639301-C-A",
        "variant": "11:20639301 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-20617755-C-A?dataset=gnomad_r3",
        "id": "11-20617755-C-A",
        "variant": "11:20617755 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-20617755-C-A?dataset=gnomad_r4",
        "id": "11-20617755-C-A",
        "variant": "11:20617755 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 20617755,
          "referenceAllele": "C",
          "start": 20617754
        }
      ],
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        "CM000673.2:g.20617755C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 20639301,
          "referenceAllele": "C",
          "start": 20639300
        }
      ],
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        "CM000673.1:g.20639301C>A"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 20595877,
          "referenceAllele": "C",
          "start": 20595876
        }
      ],
      "hgvs": [
        "NC_000011.8:g.20595877C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
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          "end": 23356,
          "referenceAllele": "C",
          "start": 23355
        }
      ],
      "hgvs": [
        "NG_013086.1:g.23356C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23356,
          "referenceAllele": "C",
          "start": 23355
        }
      ],
      "hgvs": [
        "NG_013086.2:g.23356C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616203"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "ENST00000525748.6:c.1131C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000434364.2:p.Tyr377_Cys797delinsPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758926",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000525748.6:c.1131C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004211.5:c.1131C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434364.2:p.Tyr377Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004202.4:p.Tyr377Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "ENST00000298923.11:c.*428C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298923.7:n.*428C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "ENST00000525748.5:c.1131C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434364.1:p.Tyr377Ter",
        "hgvsWellDefined": "ENSP00000434364.1:p.Tyr377_Cys797delinsPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351720"
    },
    {
      "@id": "http://reg.genome.network/allele/PA340451",
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_004211.3:c.1131C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004202.2:p.Tyr377Ter",
        "hgvsWellDefined": "NP_004202.2:p.Tyr377_Cys797delinsPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "XM_005253225.1:c.429C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253282.1:p.Tyr143Ter",
        "hgvsWellDefined": "XP_005253282.1:p.Tyr143_Cys563delinsPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "XM_011520473.1:c.1131C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518775.1:p.Tyr377Ter",
        "hgvsWellDefined": "XP_011518775.1:p.Tyr377_Cys797delinsPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826989230",
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_001318369.1:c.429C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305298.1:p.Tyr143Ter",
        "hgvsWellDefined": "NP_001305298.1:p.Tyr143_Cys563delinsPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512860"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891865507",
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_004211.4:c.1131C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004202.3:p.Tyr377Ter",
        "hgvsWellDefined": "NP_004202.3:p.Tyr377_Cys797delinsPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "referenceAllele": "C",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "XM_017018544.2:c.255C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874033.1:p.Tyr85Ter",
        "hgvsWellDefined": "XP_016874033.1:p.Tyr85_Cys505delinsPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 328,
          "referenceAllele": "C",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "XM_017018545.2:c.90C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874034.1:p.Tyr30Ter",
        "hgvsWellDefined": "XP_016874034.1:p.Tyr30_Cys450delinsPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826989230",
      "coordinates": [
        {
          "allele": "A",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_001318369.2:c.429C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305298.1:p.Tyr143Ter",
        "hgvsWellDefined": "NP_001305298.1:p.Tyr143_Cys563delinsPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139708424",
      "coordinates": [
        {
          "allele": "A",
          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_004211.5:c.1131C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004202.4:p.Tyr377Ter",
        "hgvsWellDefined": "NP_004202.4:p.Tyr377_Cys797delinsPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696077",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000525748.6:c.1131C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004211.5:c.1131C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434364.2:p.Tyr377Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004202.4:p.Tyr377Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}