{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA407963899",
  "communityStandardTitle": [
    "NM_033409.4(SLC52A3):c.408C>A (p.Tyr136Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.746011G>T?assembly=hg19",
        "id": "chr20:g.746011G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.765367G>T?assembly=hg38",
        "id": "chr20:g.765367G>T"
      }
    ]
  },
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      "chromosome": "20",
      "coordinates": [
        {
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          "end": 765367,
          "referenceAllele": "G",
          "start": 765366
        }
      ],
      "hgvs": [
        "NC_000020.11:g.765367G>T",
        "CM000682.2:g.765367G>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 746011,
          "referenceAllele": "G",
          "start": 746010
        }
      ],
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        "NC_000020.10:g.746011G>T",
        "CM000682.1:g.746011G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 694011,
          "referenceAllele": "G",
          "start": 694010
        }
      ],
      "hgvs": [
        "NC_000020.9:g.694011G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8218,
          "referenceAllele": "C",
          "start": 8217
        }
      ],
      "hgvs": [
        "NG_027687.1:g.8218C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003910"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
          "start": 15618
        }
      ],
      "hgvs": [
        "NG_027687.2:g.15619C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS706132"
    }
  ],
  "transcriptAlleles": [
    {
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        {
          "allele": "A",
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          "start": 795
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      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
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        "ENST00000381944.5:c.408C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000371370.3:p.Tyr137_Pro415delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValSerIleArgProValGlyLeuLeuProLeuArgThrProHisProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752601"
    },
    {
      "coordinates": [
        {
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          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
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      "geneNCBI_id": 113278,
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        "hgvsWellDefined": "ENSP00000502741.1:p.Tyr137_Asn336delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnValSerAlaValProGlyGlyProLeuArgAlaTrpAspLeuLeuTrpGlyLeuGlnHisGlyHisGlyGlyAspGluProLeuProProLeuAlaGlyProLeuGlyTrpGlySerProHisCysGlyLeuValGlyAlaPheGlnArgLeuProGlnLeuArgGlnGlyAspAlaGlyArgGlyProAlaArgProGlnProGlnArgProLeuValValArgGlyGlyGlyAlaAlaGlyLeuAlaAlaArgSerAlaAlaHisValProSerGlyGlnArgAlaAlaAlaLeuLeuValArgGlyLeuLeuGlnSerAlaLeuSerSerLeuGlyArgProProThrProProProSerLeuThrAspGlyThrGlyValGlnArgGlyGlnValThrGluGlnGlyAlaGlyThrGluArgGlnSerLeuSerAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757099"
    },
    {
      "coordinates": [
        {
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          "end": 1172,
          "referenceAllele": "C",
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        }
      ],
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      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000488495.3:c.408C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000494009.1:p.Tyr137_Ala469delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
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      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494193.1:p.Tyr136Ter",
        "hgvsWellDefined": "ENSP00000494193.1:p.Tyr137_Ala469delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645534.1:c.408C>A"
          },
          "RefSeq": {
            "hgvs": "NM_033409.4:c.408C>A"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000494193.1:p.Tyr136Ter"
          },
          "RefSeq": {
            "hgvs": "NP_212134.3:p.Tyr136Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000675066.1:c.408C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501902.1:p.Tyr136Ter",
        "hgvsWellDefined": "ENSP00000501902.1:p.Tyr137_Ser364delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgCysAlaLeuIleTrpSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501807.1:p.Tyr136Ter",
        "hgvsWellDefined": "ENSP00000501807.1:p.Tyr136_Ser228del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775875"
    },
    {
      "coordinates": [
        {
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          "end": 706,
          "referenceAllele": "C",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000217254.11:c.408C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217254.7:p.Tyr136Ter",
        "hgvsWellDefined": "ENSP00000217254.7:p.Tyr137_Ala469delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000381944.4:c.408C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371370.3:p.Tyr136Ter",
        "hgvsWellDefined": "ENSP00000371370.3:p.Tyr137_Pro415delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValSerIleArgProValGlyLeuLeuProLeuArgThrProHisProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
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      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000473664.1:n.459C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 747,
          "referenceAllele": "C",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000632431.1:c.408C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488723.1:p.Tyr136Ter",
        "hgvsWellDefined": "ENSP00000488723.1:p.Tyr137_Ala469delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580490059",
      "coordinates": [
        {
          "allele": "A",
          "end": 747,
          "referenceAllele": "C",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_033409.3:c.408C>A"
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      "proteinEffect": {
        "hgvs": "NP_212134.3:p.Tyr136Ter",
        "hgvsWellDefined": "NP_212134.3:p.Tyr137_Ala469delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_005260655.3:c.408C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260712.1:p.Tyr136Ter",
        "hgvsWellDefined": "XP_005260712.1:p.Tyr137_Ala469delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1185,
          "referenceAllele": "C",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_011529148.1:c.408C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527450.1:p.Tyr136Ter",
        "hgvsWellDefined": "XP_011527450.1:p.Tyr137_Ala469delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "referenceAllele": "C",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_005260655.4:c.408C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260712.1:p.Tyr136Ter",
        "hgvsWellDefined": "XP_005260712.1:p.Tyr137_Ala469delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_024451821.1:c.408C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307589.1:p.Tyr136Ter",
        "hgvsWellDefined": "XP_024307589.1:p.Tyr137_Ala469delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580490059",
      "coordinates": [
        {
          "allele": "A",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_033409.4:c.408C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_212134.3:p.Tyr136Ter",
        "hgvsWellDefined": "NP_212134.3:p.Tyr137_Ala469delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645534.1:c.408C>A"
          },
          "RefSeq": {
            "hgvs": "NM_033409.4:c.408C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494193.1:p.Tyr136Ter"
          },
          "RefSeq": {
            "hgvs": "NP_212134.3:p.Tyr136Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828374877",
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_001370085.1:c.408C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357014.1:p.Tyr136Ter",
        "hgvsWellDefined": "NP_001357014.1:p.Tyr137_Ala469delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828375230",
      "coordinates": [
        {
          "allele": "A",
          "end": 1185,
          "referenceAllele": "C",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_001370086.1:c.408C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357015.1:p.Tyr136Ter",
        "hgvsWellDefined": "NP_001357015.1:p.Tyr137_Ala469delinsLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692110"
    }
  ],
  "type": "nucleotide"
}