{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379910537",
  "communityStandardTitle": [
    "NM_004211.5(SLC6A5):c.31A>T (p.Lys11Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3025181[alleleid]",
        "alleleId": 3025181,
        "preferredName": "NM_004211.5(SLC6A5):c.31A>T (p.Lys11Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2858966",
        "RCV": [
          "RCV003646670"
        ],
        "variationId": 2858966
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.20622702A>T?assembly=hg19",
        "id": "chr11:g.20622702A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.20601156A>T?assembly=hg38",
        "id": "chr11:g.20601156A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2494092557",
        "rs": 2494092557
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 20601156,
          "referenceAllele": "A",
          "start": 20601155
        }
      ],
      "hgvs": [
        "NC_000011.10:g.20601156A>T",
        "CM000673.2:g.20601156A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 20622702,
          "referenceAllele": "A",
          "start": 20622701
        }
      ],
      "hgvs": [
        "NC_000011.9:g.20622702A>T",
        "CM000673.1:g.20622702A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 20579278,
          "referenceAllele": "A",
          "start": 20579277
        }
      ],
      "hgvs": [
        "NC_000011.8:g.20579278A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6757,
          "referenceAllele": "A",
          "start": 6756
        }
      ],
      "hgvs": [
        "NG_013086.1:g.6757A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6757,
          "referenceAllele": "A",
          "start": 6756
        }
      ],
      "hgvs": [
        "NG_013086.2:g.6757A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616203"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 96,
          "referenceAllele": "A",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "ENST00000525748.6:c.31A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434364.2:p.Lys11Ter",
        "hgvsWellDefined": "ENSP00000434364.2:p.Lys11_Cys797delinsLeuProAlaAsnSerProGluAlaAlaAlaAlaGlnGlyHisProAspGlyProCysAlaProArgThrSerProGluGlnGluLeuProAlaAlaAlaAlaProProProProArgValProArgSerAlaSerThrGlyAlaGlnThrPheGlnSerAlaAspAlaArgAlaCysGluAlaGluArgProGlyValGlySerCysLysLeuSerSerProArgAlaGlnAlaAlaSerAlaAlaLeuArgAspLeuArgGluAlaGlnGlyAlaGlnAlaSerProProProGlySerSerGlyProGlyAsnAlaLeuHisCysLysIleProPheLeuArgGlyProGluGlyAspAlaAsnValSerValGlyLysGlyThrLeuGluArgAsnAsnThrProValValGlyTrpValAsnMetSerGlnSerThrValValLeuAlaThrAspGlyIleThrSerValLeuProGlySerValAlaThrValAlaThrGlnGluAspGluGlnGlyAspGluAsnLysAlaArgGlyAsnTrpSerSerLysLeuAspPheIleLeuSerMetValGlyTyrAlaValGlyLeuGlyAsnValTrpArgPheProTyrLeuAlaPheGlnAsnGlyGlyGlyAlaPheLeuIleProTyrLeuMetMetLeuAlaLeuAlaGlyLeuProIlePhePheLeuGluValSerLeuGlyGlnPheAlaSerGlnGlyProValSerValTrpLysAlaIleProAlaLeuGlnGlyCysGlyIleAlaMetLeuIleIleSerValLeuIleAlaIleTyrTyrAsnValIleIleCysTyrThrLeuPheTyrLeuPheAlaSerPheValSerValLeuProTrpGlySerCysAsnAsnProTrpAsnThrProGluCysLysAspLysThrLysLeuLeuLeuAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758926",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000525748.6:c.31A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004211.5:c.31A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434364.2:p.Lys11Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004202.4:p.Lys11Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 110,
          "referenceAllele": "A",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "ENST00000298923.11:c.31A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298923.7:p.Lys11Ter",
        "hgvsWellDefined": "ENSP00000298923.7:p.Lys11_Thr187delinsLeuProAlaAsnSerProGluAlaAlaAlaAlaGlnGlyHisProAspGlyProCysAlaProArgThrSerProGluGlnGluLeuProAlaAlaAlaAlaProProProProArgValProArgSerAlaSerThrGlyAlaGlnThrPheGlnSerAlaAspAlaArgAlaCysGluAlaGluArgProGlyValGlySerCysLysLeuSerSerProArgAlaGlnAlaAlaSerAlaAlaLeuArgAspLeuArgGluAlaGlnGlyAlaGlnAlaSerProProProGlySerSerGlyProGlyAsnAlaLeuHisCysLysIleProPheLeuArgGlyProGluGlyAspAlaAsnValSerValGlyLysGlyThrLeuGluArgAsnAsnThrProValValGlyTrpValAsnMetSerGlnSerThrValValLeuAlaThrAspGlyIleThrSerValLeuProGlySerValAlaThrValAlaThrGlnValLeuSerSerSerLeuThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "referenceAllele": "A",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "ENST00000525748.5:c.31A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434364.1:p.Lys11Ter",
        "hgvsWellDefined": "ENSP00000434364.1:p.Lys11_Cys797delinsLeuProAlaAsnSerProGluAlaAlaAlaAlaGlnGlyHisProAspGlyProCysAlaProArgThrSerProGluGlnGluLeuProAlaAlaAlaAlaProProProProArgValProArgSerAlaSerThrGlyAlaGlnThrPheGlnSerAlaAspAlaArgAlaCysGluAlaGluArgProGlyValGlySerCysLysLeuSerSerProArgAlaGlnAlaAlaSerAlaAlaLeuArgAspLeuArgGluAlaGlnGlyAlaGlnAlaSerProProProGlySerSerGlyProGlyAsnAlaLeuHisCysLysIleProPheLeuArgGlyProGluGlyAspAlaAsnValSerValGlyLysGlyThrLeuGluArgAsnAsnThrProValValGlyTrpValAsnMetSerGlnSerThrValValLeuAlaThrAspGlyIleThrSerValLeuProGlySerValAlaThrValAlaThrGlnGluAspGluGlnGlyAspGluAsnLysAlaArgGlyAsnTrpSerSerLysLeuAspPheIleLeuSerMetValGlyTyrAlaValGlyLeuGlyAsnValTrpArgPheProTyrLeuAlaPheGlnAsnGlyGlyGlyAlaPheLeuIleProTyrLeuMetMetLeuAlaLeuAlaGlyLeuProIlePhePheLeuGluValSerLeuGlyGlnPheAlaSerGlnGlyProValSerValTrpLysAlaIleProAlaLeuGlnGlyCysGlyIleAlaMetLeuIleIleSerValLeuIleAlaIleTyrTyrAsnValIleIleCysTyrThrLeuPheTyrLeuPheAlaSerPheValSerValLeuProTrpGlySerCysAsnAsnProTrpAsnThrProGluCysLysAspLysThrLysLeuLeuLeuAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "referenceAllele": "A",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_004211.3:c.31A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004202.2:p.Lys11Ter",
        "hgvsWellDefined": "NP_004202.2:p.Lys11_Cys797delinsLeuProAlaAsnSerProGluAlaAlaAlaAlaGlnGlyHisProAspGlyProCysAlaProArgThrSerProGluGlnGluLeuProAlaAlaAlaAlaProProProProArgValProArgSerAlaSerThrGlyAlaGlnThrPheGlnSerAlaAspAlaArgAlaCysGluAlaGluArgProGlyValGlySerCysLysLeuSerSerProArgAlaGlnAlaAlaSerAlaAlaLeuArgAspLeuArgGluAlaGlnGlyAlaGlnAlaSerProProProGlySerSerGlyProGlyAsnAlaLeuHisCysLysIleProPheLeuArgGlyProGluGlyAspAlaAsnValSerValGlyLysGlyThrLeuGluArgAsnAsnThrProValValGlyTrpValAsnMetSerGlnSerThrValValLeuAlaThrAspGlyIleThrSerValLeuProGlySerValAlaThrValAlaThrGlnGluAspGluGlnGlyAspGluAsnLysAlaArgGlyAsnTrpSerSerLysLeuAspPheIleLeuSerMetValGlyTyrAlaValGlyLeuGlyAsnValTrpArgPheProTyrLeuAlaPheGlnAsnGlyGlyGlyAlaPheLeuIleProTyrLeuMetMetLeuAlaLeuAlaGlyLeuProIlePhePheLeuGluValSerLeuGlyGlnPheAlaSerGlnGlyProValSerValTrpLysAlaIleProAlaLeuGlnGlyCysGlyIleAlaMetLeuIleIleSerValLeuIleAlaIleTyrTyrAsnValIleIleCysTyrThrLeuPheTyrLeuPheAlaSerPheValSerValLeuProTrpGlySerCysAsnAsnProTrpAsnThrProGluCysLysAspLysThrLysLeuLeuLeuAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 110,
          "referenceAllele": "A",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "XM_005253225.1:c.-533A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253282.1:n.-533A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "referenceAllele": "A",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "XM_011520473.1:c.31A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518775.1:p.Lys11Ter",
        "hgvsWellDefined": "XP_011518775.1:p.Lys11_Cys797delinsLeuProAlaAsnSerProGluAlaAlaAlaAlaGlnGlyHisProAspGlyProCysAlaProArgThrSerProGluGlnGluLeuProAlaAlaAlaAlaProProProProArgValProArgSerAlaSerThrGlyAlaGlnThrPheGlnSerAlaAspAlaArgAlaCysGluAlaGluArgProGlyValGlySerCysLysLeuSerSerProArgAlaGlnAlaAlaSerAlaAlaLeuArgAspLeuArgGluAlaGlnGlyAlaGlnAlaSerProProProGlySerSerGlyProGlyAsnAlaLeuHisCysLysIleProPheLeuArgGlyProGluGlyAspAlaAsnValSerValGlyLysGlyThrLeuGluArgAsnAsnThrProValValGlyTrpValAsnMetSerGlnSerThrValValLeuAlaThrAspGlyIleThrSerValLeuProGlySerValAlaThrValAlaThrGlnGluAspGluGlnGlyAspGluAsnLysAlaArgGlyAsnTrpSerSerLysLeuAspPheIleLeuSerMetValGlyTyrAlaValGlyLeuGlyAsnValTrpArgPheProTyrLeuAlaPheGlnAsnGlyGlyGlyAlaPheLeuIleProTyrLeuMetMetLeuAlaLeuAlaGlyLeuProIlePhePheLeuGluValSerLeuGlyGlnPheAlaSerGlnGlyProValSerValTrpLysAlaIleProAlaLeuGlnGlyCysGlyIleAlaMetLeuIleIleSerValLeuIleAlaIleTyrTyrAsnValIleIleCysTyrThrLeuPheTyrLeuPheAlaSerPheValSerValLeuProTrpGlySerCysAsnAsnProTrpAsnThrProGluCysLysAspLysThrLysLeuLeuLeuAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "referenceAllele": "A",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_001318369.1:c.-533A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305298.1:n.-533A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "referenceAllele": "A",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_004211.4:c.31A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004202.3:p.Lys11Ter",
        "hgvsWellDefined": "NP_004202.3:p.Lys11_Cys797delinsLeuProAlaAsnSerProGluAlaAlaAlaAlaGlnGlyHisProAspGlyProCysAlaProArgThrSerProGluGlnGluLeuProAlaAlaAlaAlaProProProProArgValProArgSerAlaSerThrGlyAlaGlnThrPheGlnSerAlaAspAlaArgAlaCysGluAlaGluArgProGlyValGlySerCysLysLeuSerSerProArgAlaGlnAlaAlaSerAlaAlaLeuArgAspLeuArgGluAlaGlnGlyAlaGlnAlaSerProProProGlySerSerGlyProGlyAsnAlaLeuHisCysLysIleProPheLeuArgGlyProGluGlyAspAlaAsnValSerValGlyLysGlyThrLeuGluArgAsnAsnThrProValValGlyTrpValAsnMetSerGlnSerThrValValLeuGlyThrAspGlyIleThrSerValLeuProGlySerValAlaThrValAlaThrGlnGluAspGluGlnGlyAspGluAsnLysAlaArgGlyAsnTrpSerSerLysLeuAspPheIleLeuSerMetValGlyTyrAlaValGlyLeuGlyAsnValTrpArgPheProTyrLeuAlaPheGlnAsnGlyGlyGlyAlaPheLeuIleProTyrLeuMetMetLeuAlaLeuAlaGlyLeuProIlePhePheLeuGluValSerLeuGlyGlnPheAlaSerGlnGlyProValSerValTrpLysAlaIleProAlaLeuGlnGlyCysGlyIleAlaMetLeuIleIleSerValLeuIleAlaIleTyrTyrAsnValIleIleCysTyrThrLeuPheTyrLeuPheAlaSerPheValSerValLeuProTrpGlySerCysAsnAsnProTrpAsnThrProGluCysLysAspLysThrLysLeuLeuLeuAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "endIntronDirection": "+",
          "endIntronOffset": 1481,
          "referenceAllele": "A",
          "start": 182,
          "startIntronDirection": "+",
          "startIntronOffset": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "XM_017018545.2:c.-57+1481A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874034.1:n.-57+1481A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 96,
          "referenceAllele": "A",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_001318369.2:c.-533A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305298.1:n.-533A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741908329",
      "coordinates": [
        {
          "allele": "T",
          "end": 96,
          "referenceAllele": "A",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_004211.5:c.31A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004202.4:p.Lys11Ter",
        "hgvsWellDefined": "NP_004202.4:p.Lys11_Cys797delinsLeuProAlaAsnSerProGluAlaAlaAlaAlaGlnGlyHisProAspGlyProCysAlaProArgThrSerProGluGlnGluLeuProAlaAlaAlaAlaProProProProArgValProArgSerAlaSerThrGlyAlaGlnThrPheGlnSerAlaAspAlaArgAlaCysGluAlaGluArgProGlyValGlySerCysLysLeuSerSerProArgAlaGlnAlaAlaSerAlaAlaLeuArgAspLeuArgGluAlaGlnGlyAlaGlnAlaSerProProProGlySerSerGlyProGlyAsnAlaLeuHisCysLysIleProPheLeuArgGlyProGluGlyAspAlaAsnValSerValGlyLysGlyThrLeuGluArgAsnAsnThrProValValGlyTrpValAsnMetSerGlnSerThrValValLeuAlaThrAspGlyIleThrSerValLeuProGlySerValAlaThrValAlaThrGlnGluAspGluGlnGlyAspGluAsnLysAlaArgGlyAsnTrpSerSerLysLeuAspPheIleLeuSerMetValGlyTyrAlaValGlyLeuGlyAsnValTrpArgPheProTyrLeuAlaPheGlnAsnGlyGlyGlyAlaPheLeuIleProTyrLeuMetMetLeuAlaLeuAlaGlyLeuProIlePhePheLeuGluValSerLeuGlyGlnPheAlaSerGlnGlyProValSerValTrpLysAlaIleProAlaLeuGlnGlyCysGlyIleAlaMetLeuIleIleSerValLeuIleAlaIleTyrTyrAsnValIleIleCysTyrThrLeuPheTyrLeuPheAlaSerPheValSerValLeuProTrpGlySerCysAsnAsnProTrpAsnThrProGluCysLysAspLysThrLysLeuLeuLeuAspSerCysValIleSerAspHisProLysIleGlnIleLysAsnSerThrPheCysMetThrAlaTyrProAsnValThrMetValAsnPheThrSerGlnAlaAsnLysThrPheValSerGlySerGluGluTyrPheLysTyrPheValLeuLysIleSerAlaGlyIleGluTyrProGlyGluIleArgTrpProLeuAlaLeuCysLeuPheLeuAlaTrpValIleValTyrAlaSerLeuAlaLysGlyIleLysThrSerGlyLysValValTyrPheThrAlaThrPheProTyrValValLeuValIleLeuLeuIleArgGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696077",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000525748.6:c.31A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004211.5:c.31A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434364.2:p.Lys11Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004202.4:p.Lys11Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}