{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409267092",
  "communityStandardTitle": [
    "NM_030777.4(SLC2A10):c.485G>A (p.Trp162Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1313892[alleleid]",
        "alleleId": 1313892,
        "preferredName": "NM_030777.4(SLC2A10):c.485G>A (p.Trp162Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1323610",
        "RCV": [
          "RCV001784984"
        ],
        "variationId": 1323610
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.45354160G>A?assembly=hg19",
        "id": "chr20:g.45354160G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.46725521G>A?assembly=hg38",
        "id": "chr20:g.46725521G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2123045274",
        "rs": 2123045274
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 46725521,
          "referenceAllele": "G",
          "start": 46725520
        }
      ],
      "hgvs": [
        "NC_000020.11:g.46725521G>A",
        "CM000682.2:g.46725521G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 45354160,
          "referenceAllele": "G",
          "start": 45354159
        }
      ],
      "hgvs": [
        "NC_000020.10:g.45354160G>A",
        "CM000682.1:g.45354160G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 44787567,
          "referenceAllele": "G",
          "start": 44787566
        }
      ],
      "hgvs": [
        "NC_000020.9:g.44787567G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20882,
          "referenceAllele": "G",
          "start": 20881
        }
      ],
      "hgvs": [
        "NG_016284.1:g.20882G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003075"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "ENST00000359271.4:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352216.2:p.Trp162Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749176",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359271.4:c.485G>A"
          },
          "RefSeq": {
            "hgvs": "NM_030777.4:c.485G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352216.2:p.Trp162Ter"
          },
          "RefSeq": {
            "hgvs": "NP_110404.1:p.Trp162Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "ENST00000359271.3:c.485G>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000352216.2:p.Trp162_Ser541delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlyThrIleGlyLeuSerTrpThrPheLeuLeuTyrGlyLeuThrAlaValLeuGlyLeuGlyPheIleTyrLeuPheValProGluThrLysGlyGlnSerLeuAlaGluIleAspGlnGlnPheGlnLysArgArgPheThrLeuSerPheGlyHisArgGlnAsnSerThrGlyIleProTyrSerArgIleGluIleSerAlaAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573096336",
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "NM_030777.3:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_110404.1:p.Trp162Ter",
        "hgvsWellDefined": "NP_110404.1:p.Trp162_Ser541delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlyThrIleGlyLeuSerTrpThrPheLeuLeuTyrGlyLeuThrAlaValLeuGlyLeuGlyPheIleTyrLeuPheValProGluThrLysGlyGlnSerLeuAlaGluIleAspGlnGlnPheGlnLysArgArgPheThrLeuSerPheGlyHisArgGlnAsnSerThrGlyIleProTyrSerArgIleGluIleSerAlaAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529060.1:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527362.1:p.Trp183Ter",
        "hgvsWellDefined": "XP_011527362.1:p.Trp183_Ser562delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlyThrIleGlyLeuSerTrpThrPheLeuLeuTyrGlyLeuThrAlaValLeuGlyLeuGlyPheIleTyrLeuPheValProGluThrLysGlyGlnSerLeuAlaGluIleAspGlnGlnPheGlnLysArgArgPheThrLeuSerPheGlyHisArgGlnAsnSerThrGlyIleProTyrSerArgIleGluIleSerAlaAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 721,
          "referenceAllele": "G",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529061.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527363.1:p.Trp165Ter",
        "hgvsWellDefined": "XP_011527363.1:p.Trp165_Ser544delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlyThrIleGlyLeuSerTrpThrPheLeuLeuTyrGlyLeuThrAlaValLeuGlyLeuGlyPheIleTyrLeuPheValProGluThrLysGlyGlnSerLeuAlaGluIleAspGlnGlnPheGlnLysArgArgPheThrLeuSerPheGlyHisArgGlnAsnSerThrGlyIleProTyrSerArgIleGluIleSerAlaAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 687,
          "referenceAllele": "G",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529062.1:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527364.1:p.Trp183Ter",
        "hgvsWellDefined": "XP_011527364.1:p.Trp183_Ser533delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProGlyProArgSerHisHisSerProGlyAlaLeuLeuLeuSerHisProSerAspLeuAlaCysProGlnArgAspLeuProCysGlyAspThrArgLysSerLeuArgLeuLeuGlnGlnLeuGlnLeuGlyGlyGlnProLeuHisGlnProLeuLeuProArgSerHisTrpPheThrLeuSerPheGlyHisArgGlnAsnSerThrGlyIleProTyrSerArgIleGluIleSerAlaAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 687,
          "referenceAllele": "G",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529063.1:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527365.1:p.Trp183Ter",
        "hgvsWellDefined": "XP_011527365.1:p.Trp183_Ala532delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleAspGlyLysIleHisProTyrProValGlnProGlySerGlnLysThrArgThrSerProThrAlaPheGlnProIleAlaLeuProAlaGlyAspArgSerSerTrpSerTrpGluAlaAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 688,
          "referenceAllele": "G",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529064.1:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527366.1:p.Trp183Ter",
        "hgvsWellDefined": "XP_011527366.1:p.Trp183_His507delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProGlyProArgSerHisHisSerProGlyAlaLeuLeuLeuSerHisProSerAspLeuAlaCysProGlnArgAspLeuProCysGlyAspThrArgLysSerLeuArgLeuLeuGlnGlnLeuGlnLeuGlyGlyGlnProLeuHisGlnProLeuLeuProArgSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529065.1:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527367.1:p.Trp183Ter",
        "hgvsWellDefined": "XP_011527367.1:p.Trp183_Pro494delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlySerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XR_936641.1:n.684G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 665,
          "referenceAllele": "G",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529060.2:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527362.1:p.Trp183Ter",
        "hgvsWellDefined": "XP_011527362.1:p.Trp183_Ser562delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlyThrIleGlyLeuSerTrpThrPheLeuLeuTyrGlyLeuThrAlaValLeuGlyLeuGlyPheIleTyrLeuPheValProGluThrLysGlyGlnSerLeuAlaGluIleAspGlnGlnPheGlnLysArgArgPheThrLeuSerPheGlyHisArgGlnAsnSerThrGlyIleProTyrSerArgIleGluIleSerAlaAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2222,
          "referenceAllele": "G",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529061.2:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527363.1:p.Trp165Ter",
        "hgvsWellDefined": "XP_011527363.1:p.Trp165_Ser544delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlyThrIleGlyLeuSerTrpThrPheLeuLeuTyrGlyLeuThrAlaValLeuGlyLeuGlyPheIleTyrLeuPheValProGluThrLysGlyGlnSerLeuAlaGluIleAspGlnGlnPheGlnLysArgArgPheThrLeuSerPheGlyHisArgGlnAsnSerThrGlyIleProTyrSerArgIleGluIleSerAlaAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529062.2:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527364.1:p.Trp183Ter",
        "hgvsWellDefined": "XP_011527364.1:p.Trp183_Ser533delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProGlyProArgSerHisHisSerProGlyAlaLeuLeuLeuSerHisProSerAspLeuAlaCysProGlnArgAspLeuProCysGlyAspThrArgLysSerLeuArgLeuLeuGlnGlnLeuGlnLeuGlyGlyGlnProLeuHisGlnProLeuLeuProArgSerHisTrpPheThrLeuSerPheGlyHisArgGlnAsnSerThrGlyIleProTyrSerArgIleGluIleSerAlaAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529063.2:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527365.1:p.Trp183Ter",
        "hgvsWellDefined": "XP_011527365.1:p.Trp183_Ala532delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleAspGlyLysIleHisProTyrProValGlnProGlySerGlnLysThrArgThrSerProThrAlaPheGlnProIleAlaLeuProAlaGlyAspArgSerSerTrpSerTrpGluAlaAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 677,
          "referenceAllele": "G",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529064.2:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527366.1:p.Trp183Ter",
        "hgvsWellDefined": "XP_011527366.1:p.Trp183_His507delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProGlyProArgSerHisHisSerProGlyAlaLeuLeuLeuSerHisProSerAspLeuAlaCysProGlnArgAspLeuProCysGlyAspThrArgLysSerLeuArgLeuLeuGlnGlnLeuGlnLeuGlyGlyGlnProLeuHisGlnProLeuLeuProArgSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529065.2:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527367.1:p.Trp183Ter",
        "hgvsWellDefined": "XP_011527367.1:p.Trp183_Pro494delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlySerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_017028087.2:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883576.1:p.Trp162Ter",
        "hgvsWellDefined": "XP_016883576.1:p.Trp162_Pro473delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlySerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "referenceAllele": "G",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XR_936641.2:n.671G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573096336",
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "NM_030777.4:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_110404.1:p.Trp162Ter",
        "hgvsWellDefined": "NP_110404.1:p.Trp162_Ser541delinsGlyTrpArgHisMetPheGlyTrpAlaThrAlaProAlaValLeuGlnSerLeuSerLeuLeuPheLeuProAlaGlyThrAspGluThrAlaThrHisLysAspLeuIleProLeuGlnGlyGlyGluAlaProLysLeuGlyProGlyArgProArgTyrSerPheLeuAspLeuPheArgAlaArgAspAsnMetArgGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlyThrIleGlyLeuSerTrpThrPheLeuLeuTyrGlyLeuThrAlaValLeuGlyLeuGlyPheIleTyrLeuPheValProGluThrLysGlyGlnSerLeuAlaGluIleAspGlnGlnPheGlnLysArgArgPheThrLeuSerPheGlyHisArgGlnAsnSerThrGlyIleProTyrSerArgIleGluIleSerAlaAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671005",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359271.4:c.485G>A"
          },
          "RefSeq": {
            "hgvs": "NM_030777.4:c.485G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352216.2:p.Trp162Ter"
          },
          "RefSeq": {
            "hgvs": "NP_110404.1:p.Trp162Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}