{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379913822",
  "communityStandardTitle": [
    "NM_004211.5(SLC6A5):c.769C>T (p.Gln257Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2069202[alleleid]",
        "alleleId": 2069202,
        "preferredName": "NM_004211.5(SLC6A5):c.769C>T (p.Gln257Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2018966",
        "RCV": [
          "RCV002846749"
        ],
        "variationId": 2018966
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.20628642C>T?assembly=hg19",
        "id": "chr11:g.20628642C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.20607096C>T?assembly=hg38",
        "id": "chr11:g.20607096C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2494105360",
        "rs": 2494105360
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 20607096,
          "referenceAllele": "C",
          "start": 20607095
        }
      ],
      "hgvs": [
        "NC_000011.10:g.20607096C>T",
        "CM000673.2:g.20607096C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 20628642,
          "referenceAllele": "C",
          "start": 20628641
        }
      ],
      "hgvs": [
        "NC_000011.9:g.20628642C>T",
        "CM000673.1:g.20628642C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 20585218,
          "referenceAllele": "C",
          "start": 20585217
        }
      ],
      "hgvs": [
        "NC_000011.8:g.20585218C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12697,
          "referenceAllele": "C",
          "start": 12696
        }
      ],
      "hgvs": [
        "NG_013086.1:g.12697C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12697,
          "referenceAllele": "C",
          "start": 12696
        }
      ],
      "hgvs": [
        "NG_013086.2:g.12697C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616203"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "ENST00000525748.6:c.769C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434364.2:p.Gln257Ter",
        "hgvsWellDefined": "ENSP00000434364.2:p.Gln257_Cys797delinsGlyProValSerValTrpLysAlaIleProAlaLeuGlnGlyCysGlyIleAlaMetLeuIleIleSerValLeuIleAlaIleTyrTyrAsnValIleIleCysTyrThrLeuPheTyrLeuPheAlaSerPheValSerValLeuProTrpGlySerCysAsnAsnProTrpAsnThrProGluCysLysAspLysThrLysLeuLeuLeuAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758926",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000525748.6:c.769C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004211.5:c.769C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434364.2:p.Gln257Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004202.4:p.Gln257Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "referenceAllele": "C",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "ENST00000298923.11:c.*66C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298923.7:n.*66C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "C",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "ENST00000525748.5:c.769C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434364.1:p.Gln257Ter",
        "hgvsWellDefined": "ENSP00000434364.1:p.Gln257_Cys797delinsGlyProValSerValTrpLysAlaIleProAlaLeuGlnGlyCysGlyIleAlaMetLeuIleIleSerValLeuIleAlaIleTyrTyrAsnValIleIleCysTyrThrLeuPheTyrLeuPheAlaSerPheValSerValLeuProTrpGlySerCysAsnAsnProTrpAsnThrProGluCysLysAspLysThrLysLeuLeuLeuAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "C",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_004211.3:c.769C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004202.2:p.Gln257Ter",
        "hgvsWellDefined": "NP_004202.2:p.Gln257_Cys797delinsGlyProValSerValTrpLysAlaIleProAlaLeuGlnGlyCysGlyIleAlaMetLeuIleIleSerValLeuIleAlaIleTyrTyrAsnValIleIleCysTyrThrLeuPheTyrLeuPheAlaSerPheValSerValLeuProTrpGlySerCysAsnAsnProTrpAsnThrProGluCysLysAspLysThrLysLeuLeuLeuAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "referenceAllele": "C",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "XM_005253225.1:c.67C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253282.1:p.Gln23Ter",
        "hgvsWellDefined": "XP_005253282.1:p.Gln23_Cys563delinsGlyProValSerValTrpLysAlaIleProAlaLeuGlnGlyCysGlyIleAlaMetLeuIleIleSerValLeuIleAlaIleTyrTyrAsnValIleIleCysTyrThrLeuPheTyrLeuPheAlaSerPheValSerValLeuProTrpGlySerCysAsnAsnProTrpAsnThrProGluCysLysAspLysThrLysLeuLeuLeuAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "C",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "XM_011520473.1:c.769C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518775.1:p.Gln257Ter",
        "hgvsWellDefined": "XP_011518775.1:p.Gln257_Cys797delinsGlyProValSerValTrpLysAlaIleProAlaLeuGlnGlyCysGlyIleAlaMetLeuIleIleSerValLeuIleAlaIleTyrTyrAsnValIleIleCysTyrThrLeuPheTyrLeuPheAlaSerPheValSerValLeuProTrpGlySerCysAsnAsnProTrpAsnThrProGluCysLysAspLysThrLysLeuLeuLeuAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826989188",
      "coordinates": [
        {
          "allele": "T",
          "end": 903,
          "referenceAllele": "C",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_001318369.1:c.67C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305298.1:p.Gln23Ter",
        "hgvsWellDefined": "NP_001305298.1:p.Gln23_Cys563delinsGlyProValSerValTrpLysAlaIleProAlaLeuGlnGlyCysGlyIleAlaMetLeuIleIleSerValLeuIleAlaIleTyrTyrAsnValIleIleCysTyrThrLeuPheTyrLeuPheAlaSerPheValSerValLeuProTrpGlySerCysAsnAsnProTrpAsnThrProGluCysLysAspLysThrLysLeuLeuLeuAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "C",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_004211.4:c.769C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004202.3:p.Gln257Ter",
        "hgvsWellDefined": "NP_004202.3:p.Gln257_Cys797delinsGlyProValSerValTrpLysAlaIleProAlaLeuGlnGlyCysGlyIleAlaMetLeuIleIleSerValLeuIleAlaIleTyrTyrAsnValIleIleCysTyrThrLeuPheTyrLeuPheAlaSerPheValSerValLeuProTrpGlySerCysAsnAsnProTrpAsnThrProGluCysLysAspLysThrLysLeuLeuLeuAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "C",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "XM_017018544.2:c.67C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874033.1:p.Gln23Ter",
        "hgvsWellDefined": "XP_016874033.1:p.Gln23_Cys505delinsGlyProValSerValTrpLysAlaIleProAlaLeuGlnAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "endIntronDirection": "+",
          "endIntronOffset": 7421,
          "referenceAllele": "C",
          "start": 182,
          "startIntronDirection": "+",
          "startIntronOffset": 7420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "XM_017018545.2:c.-57+7421C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874034.1:n.-57+7421C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826989188",
      "coordinates": [
        {
          "allele": "T",
          "end": 695,
          "referenceAllele": "C",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_001318369.2:c.67C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305298.1:p.Gln23Ter",
        "hgvsWellDefined": "NP_001305298.1:p.Gln23_Cys563delinsGlyProValSerValTrpLysAlaIleProAlaLeuGlnGlyCysGlyIleAlaMetLeuIleIleSerValLeuIleAlaIleTyrTyrAsnValIleIleCysTyrThrLeuPheTyrLeuPheAlaSerPheValSerValLeuProTrpGlySerCysAsnAsnProTrpAsnThrProGluCysLysAspLysThrLysLeuLeuLeuAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580288085",
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_004211.5:c.769C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004202.4:p.Gln257Ter",
        "hgvsWellDefined": "NP_004202.4:p.Gln257_Cys797delinsGlyProValSerValTrpLysAlaIleProAlaLeuGlnGlyCysGlyIleAlaMetLeuIleIleSerValLeuIleAlaIleTyrTyrAsnValIleIleCysTyrThrLeuPheTyrLeuPheAlaSerPheValSerValLeuProTrpGlySerCysAsnAsnProTrpAsnThrProGluCysLysAspLysThrLysLeuLeuLeuAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696077",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000525748.6:c.769C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004211.5:c.769C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434364.2:p.Gln257Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004202.4:p.Gln257Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}