{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341377536",
  "communityStandardTitle": [
    "NM_000110.4(DPYD):c.1475C>A (p.Ser492Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.98015165G>T?assembly=hg19",
        "id": "chr1:g.98015165G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.97549609G>T?assembly=hg38",
        "id": "chr1:g.97549609G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72549304",
        "rs": 72549304
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-98015165-G-T?dataset=gnomad_r2_1",
        "id": "1-98015165-G-T",
        "variant": "1:98015165 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-97549609-G-T?dataset=gnomad_r4",
        "id": "1-97549609-G-T",
        "variant": "1:97549609 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 97549609,
          "referenceAllele": "G",
          "start": 97549608
        }
      ],
      "hgvs": [
        "NC_000001.11:g.97549609G>T",
        "CM000663.2:g.97549609G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 98015165,
          "referenceAllele": "G",
          "start": 98015164
        }
      ],
      "hgvs": [
        "NC_000001.10:g.98015165G>T",
        "CM000663.1:g.98015165G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 97787753,
          "referenceAllele": "G",
          "start": 97787752
        }
      ],
      "hgvs": [
        "NC_000001.9:g.97787753G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 376451,
          "referenceAllele": "C",
          "start": 376450
        }
      ],
      "hgvs": [
        "NG_008807.2:g.376451C>A",
        "LRG_722:g.376451C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001226"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1587,
          "referenceAllele": "C",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "ENST00000370192.8:c.1475C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359211.3:p.Ser492Ter",
        "hgvsWellDefined": "ENSP00000359211.3:p.Ser492_Cys1025delinsValAsnAspGlyLysGlnAlaSerTrpTyrIleHisLysTyrValGlnSerGlnTyrGlyAlaSerValSerAlaLysProGluLeuProLeuPheTyrThrProIleAspLeuValAspIleSerValGluMetAlaGlyLeuLysPheIleAsnProPheGlyLeuAlaSerAlaThrProAlaThrSerThrSerMetIleArgArgAlaPheGluAlaGlyTrpGlyPheAlaLeuThrLysThrPheSerLeuAspLysAspIleValThrAsnValSerProArgIleIleArgGlyThrThrSerGlyProMetTyrGlyProGlyGlnSerSerPheLeuAsnIleGluLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750558",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370192.8:c.1475C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000110.4:c.1475C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359211.3:p.Ser492Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000101.2:p.Ser492Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1576,
          "referenceAllele": "C",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "ENST00000370192.7:c.1475C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359211.3:p.Ser492Ter",
        "hgvsWellDefined": "ENSP00000359211.3:p.Ser492_Cys1025delinsValAsnAspGlyLysGlnAlaSerTrpTyrIleHisLysTyrValGlnSerGlnTyrGlyAlaSerValSerAlaLysProGluLeuProLeuPheTyrThrProIleAspLeuValAspIleSerValGluMetAlaGlyLeuLysPheIleAsnProPheGlyLeuAlaSerAlaThrProAlaThrSerThrSerMetIleArgArgAlaPheGluAlaGlyTrpGlyPheAlaLeuThrLysThrPheSerLeuAspLysAspIleValThrAsnValSerProArgIleIleArgGlyThrThrSerGlyProMetTyrGlyProGlyGlnSerSerPheLeuAsnIleGluLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063899198",
      "coordinates": [
        {
          "allele": "A",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "NM_000110.3:c.1475C>A",
        "LRG_722t1:c.1475C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000101.2:p.Ser492Ter",
        "hgvsWellDefined": "NP_000101.2:p.Ser492_Cys1025delinsValAsnAspGlyLysGlnAlaSerTrpTyrIleHisLysTyrValGlnSerGlnTyrGlyAlaSerValSerAlaLysProGluLeuProLeuPheTyrThrProIleAspLeuValAspIleSerValGluMetAlaGlyLeuLysPheIleAsnProPheGlyLeuAlaSerAlaThrProAlaThrSerThrSerMetIleArgArgAlaPheGluAlaGlyTrpGlyPheAlaLeuThrLysThrPheSerLeuAspLysAspIleValThrAsnValSerProArgIleIleArgGlyThrThrSerGlyProMetTyrGlyProGlyGlnSerSerPheLeuAsnIleGluLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_005270562.3:c.1475C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270619.2:p.Ser492Ter",
        "hgvsWellDefined": "XP_005270619.2:p.Ser492_Cys953delinsValAsnAspGlyLysGlnAlaSerTrpTyrIleHisLysTyrValGlnAspIleValThrAsnValSerProArgIleIleArgGlyThrThrSerGlyProMetTyrGlyProGlyGlnSerSerPheLeuAsnIleGluLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_006710397.2:c.1475C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710460.1:p.Ser492Ter",
        "hgvsWellDefined": "XP_006710460.1:p.Ser492_Phe889delinsValAsnAspGlyLysGlnAlaSerTrpTyrIleHisLysTyrValGlnSerGlnTyrGlyAlaSerValSerAlaLysProGluLeuProLeuPheTyrThrProIleAspLeuValAspIleSerValGluMetAlaGlyLeuLysPheIleAsnProPheGlyLeuAlaSerAlaThrProAlaThrSerThrSerMetIleArgArgAlaPheGluAlaGlyTrpGlyPheAlaLeuThrLysThrPheSerLeuAspLysAspIleValThrAsnValSerProArgIleIleArgGlyThrThrSerGlyProMetTyrGlyProGlyGlnSerSerPheLeuAsnIleGluLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysGluThrGlnCysLeuLeuAspValIleSerSerValAspSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_006710397.3:c.1475C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710460.1:p.Ser492Ter",
        "hgvsWellDefined": "XP_006710460.1:p.Ser492_Phe889delinsValAsnAspGlyLysGlnAlaSerTrpTyrIleHisLysTyrValGlnSerGlnTyrGlyAlaSerValSerAlaLysProGluLeuProLeuPheTyrThrProIleAspLeuValAspIleSerValGluMetAlaGlyLeuLysPheIleAsnProPheGlyLeuAlaSerAlaThrProAlaThrSerThrSerMetIleArgArgAlaPheGluAlaGlyTrpGlyPheAlaLeuThrLysThrPheSerLeuAspLysAspIleValThrAsnValSerProArgIleIleArgGlyThrThrSerGlyProMetTyrGlyProGlyGlnSerSerPheLeuAsnIleGluLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysGluThrGlnCysLeuLeuAspValIleSerSerValAspSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1495,
          "referenceAllele": "C",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000507.1:c.1364C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855996.1:p.Ser455Ter",
        "hgvsWellDefined": "XP_016855996.1:p.Ser455_Cys988delinsValAsnAspGlyLysGlnAlaSerTrpTyrIleHisLysTyrValGlnSerGlnTyrGlyAlaSerValSerAlaLysProGluLeuProLeuPheTyrThrProIleAspLeuValAspIleSerValGluMetAlaGlyLeuLysPheIleAsnProPheGlyLeuAlaSerAlaThrProAlaThrSerThrSerMetIleArgArgAlaPheGluAlaGlyTrpGlyPheAlaLeuThrLysThrPheSerLeuAspLysAspIleValThrAsnValSerProArgIleIleArgGlyThrThrSerGlyProMetTyrGlyProGlyGlnSerSerPheLeuAsnIleGluLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1765,
          "referenceAllele": "C",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000508.2:c.980C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855997.1:p.Ser327Ter",
        "hgvsWellDefined": "XP_016855997.1:p.Ser327_Cys860delinsValAsnAspGlyLysGlnAlaSerTrpTyrIleHisLysTyrValGlnSerGlnTyrGlyAlaSerValSerAlaLysProGluLeuProLeuPheTyrThrProIleAspLeuValAspIleSerValGluMetAlaGlyLeuLysPheIleAsnProPheGlyLeuAlaSerAlaThrProAlaThrSerThrSerMetIleArgArgAlaPheGluAlaGlyTrpGlyPheAlaLeuThrLysThrPheSerLeuAspLysAspIleValThrAsnValSerProArgIleIleArgGlyThrThrSerGlyProMetTyrGlyProGlyGlnSerSerPheLeuAsnIleGluLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1664,
          "referenceAllele": "C",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000509.2:c.980C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855998.1:p.Ser327Ter",
        "hgvsWellDefined": "XP_016855998.1:p.Ser327_Cys860delinsValAsnAspGlyLysGlnAlaSerTrpTyrIleHisLysTyrValGlnSerGlnTyrGlyAlaSerValSerAlaLysProGluLeuProLeuPheTyrThrProIleAspLeuValAspIleSerValGluMetAlaGlyLeuLysPheIleAsnProPheGlyLeuAlaSerAlaThrProAlaThrSerThrSerMetIleArgArgAlaPheGluAlaGlyTrpGlyPheAlaLeuThrLysThrPheSerLeuAspLysAspIleValThrAsnValSerProArgIleIleArgGlyThrThrSerGlyProMetTyrGlyProGlyGlnSerSerPheLeuAsnIleGluLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000510.1:c.980C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855999.1:p.Ser327Ter",
        "hgvsWellDefined": "XP_016855999.1:p.Ser327_Cys860delinsValAsnAspGlyLysGlnAlaSerTrpTyrIleHisLysTyrValGlnSerGlnTyrGlyAlaSerValSerAlaLysProGluLeuProLeuPheTyrThrProIleAspLeuValAspIleSerValGluMetAlaGlyLeuLysPheIleAsnProPheGlyLeuAlaSerAlaThrProAlaThrSerThrSerMetIleArgArgAlaPheGluAlaGlyTrpGlyPheAlaLeuThrLysThrPheSerLeuAspLysAspIleValThrAsnValSerProArgIleIleArgGlyThrThrSerGlyProMetTyrGlyProGlyGlnSerSerPheLeuAsnIleGluLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063899198",
      "coordinates": [
        {
          "allele": "A",
          "end": 1587,
          "referenceAllele": "C",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "NM_000110.4:c.1475C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000101.2:p.Ser492Ter",
        "hgvsWellDefined": "NP_000101.2:p.Ser492_Cys1025delinsValAsnAspGlyLysGlnAlaSerTrpTyrIleHisLysTyrValGlnSerGlnTyrGlyAlaSerValSerAlaLysProGluLeuProLeuPheTyrThrProIleAspLeuValAspIleSerValGluMetAlaGlyLeuLysPheIleAsnProPheGlyLeuAlaSerAlaThrProAlaThrSerThrSerMetIleArgArgAlaPheGluAlaGlyTrpGlyPheAlaLeuThrLysThrPheSerLeuAspLysAspIleValThrAsnValSerProArgIleIleArgGlyThrThrSerGlyProMetTyrGlyProGlyGlnSerSerPheLeuAsnIleGluLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674705",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370192.8:c.1475C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000110.4:c.1475C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359211.3:p.Ser492Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000101.2:p.Ser492Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}