{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA364718933",
  "communityStandardTitle": [
    "NM_012434.5(SLC17A5):c.221T>G (p.Leu74Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2838487[alleleid]",
        "alleleId": 2838487,
        "preferredName": "NM_012434.5(SLC17A5):c.221T>G (p.Leu74Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2678768",
        "RCV": [
          "RCV003472759"
        ],
        "variationId": 2678768
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.74354200A>C?assembly=hg19",
        "id": "chr6:g.74354200A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.73644477A>C?assembly=hg38",
        "id": "chr6:g.73644477A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1474077825",
        "rs": 1474077825
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 73644477,
          "referenceAllele": "A",
          "start": 73644476
        }
      ],
      "hgvs": [
        "NC_000006.12:g.73644477A>C",
        "CM000668.2:g.73644477A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 74354200,
          "referenceAllele": "A",
          "start": 74354199
        }
      ],
      "hgvs": [
        "NC_000006.11:g.74354200A>C",
        "CM000668.1:g.74354200A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 74410921,
          "referenceAllele": "A",
          "start": 74410920
        }
      ],
      "hgvs": [
        "NC_000006.10:g.74410921A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14538,
          "referenceAllele": "T",
          "start": 14537
        }
      ],
      "hgvs": [
        "NG_008272.1:g.14538T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000987"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "referenceAllele": "T",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000355773.6:c.221T>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000348019.5:p.Leu74_His495delinsGluAspAsnArgThrSerLysAlaCysProGluHisSerAlaProIleLysValHisHisAsnGlnThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355773.6:c.221T>G"
          },
          "RefSeq": {
            "hgvs": "NM_012434.5:c.221T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348019.5:p.Leu74Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036566.1:p.Leu74Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "T",
          "start": 489
        }
      ],
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      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000355773.5:c.221T>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000348019.5:p.Leu74_His495delinsGluAspAsnArgThrSerLysAlaCysProGluHisSerAlaProIleLysValHisHisAsnGlnThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263546"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916005834",
      "coordinates": [
        {
          "allele": "G",
          "end": 349,
          "referenceAllele": "T",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_012434.4:c.221T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036566.1:p.Leu74Ter",
        "hgvsWellDefined": "NP_036566.1:p.Leu74_His495delinsGluAspAsnArgThrSerLysAlaCysProGluHisSerAlaProIleLysValHisHisAsnGlnThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032590"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "referenceAllele": "T",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_005248710.2:c.170T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248767.1:p.Leu57Ter",
        "hgvsWellDefined": "XP_005248767.1:p.Leu57_His478delinsGluAspAsnArgThrSerLysAlaCysProGluHisSerAlaProIleLysValHisHisAsnGlnThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "T",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_005248711.1:c.23T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248768.1:p.Leu8Ter",
        "hgvsWellDefined": "XP_005248768.1:p.Leu8_His429delinsGluAspAsnArgThrSerLysAlaCysProGluHisSerAlaProIleLysValHisHisAsnGlnThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 307,
          "referenceAllele": "T",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_011535750.1:c.221T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534052.1:p.Leu74Ter",
        "hgvsWellDefined": "XP_011534052.1:p.Leu74_Val397delinsGluAspAsnArgThrSerLysAlaCysProGluHisSerAlaProIleLysValHisHisAsnGlnThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetLeuValSerSerTrpAlaSerGlnIleHisLeuProLeuPheGlnGluTrpLeuGlyProSerLeuLeuLysValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102753"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 307,
          "referenceAllele": "T",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_011535751.1:c.221T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534053.1:p.Leu74Ter",
        "hgvsWellDefined": "XP_011534053.1:p.Leu74_Asn309delinsGluAspAsnArgThrSerLysAlaCysProGluHisSerAlaProIleLysValHisHisAsnGlnThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnIleIleLeuHisThrProMetValLeuLeuProCysPheLysAspHisTyrCysIleTrpLeuHisThrGluThrLeuTyrCysLeuIlePheIleAsnHisPheAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916005834",
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "referenceAllele": "T",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_012434.5:c.221T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036566.1:p.Leu74Ter",
        "hgvsWellDefined": "NP_036566.1:p.Leu74_His495delinsGluAspAsnArgThrSerLysAlaCysProGluHisSerAlaProIleLysValHisHisAsnGlnThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668048",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355773.6:c.221T>G"
          },
          "RefSeq": {
            "hgvs": "NM_012434.5:c.221T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348019.5:p.Leu74Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036566.1:p.Leu74Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 2552,
          "referenceAllele": "T",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382629.1:c.61-2553T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369558.1:n.61-2553T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828909561",
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "referenceAllele": "T",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382630.1:c.221T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369559.1:p.Leu74Ter",
        "hgvsWellDefined": "NP_001369559.1:p.Leu74_Lys470delinsGluAspAsnArgThrSerLysAlaCysProGluHisSerAlaProIleLysValHisHisAsnGlnThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerThrLeuLeuGluAsnGlyLysProCysSerIleLeuLeuLeuLeuLeuMetPheLeuValProPheSerLeuHisTyrSerProLysValLysTyrLysThrGlyLeuSerMetIleThrMetAspThrAspThrGluGlyThrAsnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741882009",
      "coordinates": [
        {
          "allele": "G",
          "end": 348,
          "referenceAllele": "T",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382631.1:c.242T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369560.1:p.Leu81Ter",
        "hgvsWellDefined": "NP_001369560.1:p.Leu81_His502delinsGluAspAsnArgThrSerLysAlaCysProGluHisSerAlaProIleLysValHisHisAsnGlnThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828909982",
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "referenceAllele": "T",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382632.1:c.221T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369561.1:p.Leu74Ter",
        "hgvsWellDefined": "NP_001369561.1:p.Leu74_His466delinsGluAspAsnArgThrSerLysAlaCysProGluHisSerAlaProIleLysValHisHisAsnGlnThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722476"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828910229",
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "referenceAllele": "T",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382633.1:c.221T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369562.1:p.Leu74Ter",
        "hgvsWellDefined": "NP_001369562.1:p.Leu74_Lys533delinsGluAspAsnArgThrSerLysAlaCysProGluHisSerAlaProIleLysValHisHisAsnGlnThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAlaGlyValGlnTrpArgAsnLeuSerSerProGlnProLeuProProGlyPheArgArgPheSerCysLeuSerLeuProAsnSerTrpAspTyrArgThrLeuLeuGluAsnGlyLysProCysSerIleLeuLeuLeuLeuLeuMetPheLeuValProPheSerLeuHisTyrSerProLysValLysTyrLysThrGlyLeuSerMetIleThrMetAspThrAspThrGluGlyThrAsnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828910476",
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "referenceAllele": "T",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382634.1:c.221T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369563.1:p.Leu74Ter",
        "hgvsWellDefined": "NP_001369563.1:p.Leu74_His442delinsGluAspAsnArgThrSerLysAlaCysProGluHisSerAlaProIleLysValHisHisAsnGlnThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828910708",
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "referenceAllele": "T",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382635.1:c.221T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369564.1:p.Leu74Ter",
        "hgvsWellDefined": "NP_001369564.1:p.Leu74_His494delinsGluAspAsnArgThrSerLysAlaCysProGluHisSerAlaProIleLysValHisHisAsnGlnThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 2552,
          "referenceAllele": "T",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382636.1:c.61-2553T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369565.1:n.61-2553T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722480"
    }
  ],
  "type": "nucleotide"
}