{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367643462",
  "communityStandardTitle": [
    "NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=487321[alleleid]",
        "alleleId": 487321,
        "preferredName": "NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/495724",
        "RCV": [
          "RCV000590006",
          "RCV001206155"
        ],
        "variationId": 495724
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.65439336C>T?assembly=hg19",
        "id": "chr7:g.65439336C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.65974349C>T?assembly=hg38",
        "id": "chr7:g.65974349C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1434169374",
        "rs": 1434169374
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-65974349-C-T?dataset=gnomad_r3",
        "id": "7-65974349-C-T",
        "variant": "7:65974349 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-65974349-C-T?dataset=gnomad_r4",
        "id": "7-65974349-C-T",
        "variant": "7:65974349 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 65974349,
          "referenceAllele": "C",
          "start": 65974348
        }
      ],
      "hgvs": [
        "NC_000007.14:g.65974349C>T",
        "CM000669.2:g.65974349C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 65439336,
          "referenceAllele": "C",
          "start": 65439335
        }
      ],
      "hgvs": [
        "NC_000007.13:g.65439336C>T",
        "CM000669.1:g.65439336C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 65076771,
          "referenceAllele": "C",
          "start": 65076770
        }
      ],
      "hgvs": [
        "NC_000007.12:g.65076771C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12966,
          "referenceAllele": "G",
          "start": 12965
        }
      ],
      "hgvs": [
        "NG_016197.1:g.12966G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003003"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1367,
          "referenceAllele": "G",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000304895.9:c.1337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302728.4:p.Trp446Ter",
        "hgvsWellDefined": "ENSP00000302728.4:p.Trp446_Thr651delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745155",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304895.9:c.1337G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000181.4:c.1337G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302728.4:p.Trp446Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000172.2:p.Trp446Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1468,
          "referenceAllele": "G",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000304895.8:c.1337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302728.4:p.Trp446Ter",
        "hgvsWellDefined": "ENSP00000302728.4:p.Trp446_Thr651delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000421103.5:c.899G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391390.1:p.Trp300Ter",
        "hgvsWellDefined": "ENSP00000391390.1:p.Trp300_Thr505delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1041,
          "referenceAllele": "G",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000430730.5:c.*604G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411859.1:n.*604G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "referenceAllele": "G",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000447929.5:c.*717G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411262.1:n.*717G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 375,
          "referenceAllele": "G",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000462371.1:n.375G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000465785.5:n.570G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1812,
          "referenceAllele": "G",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000466883.5:n.1812G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA339852",
      "coordinates": [
        {
          "allele": "A",
          "end": 1468,
          "referenceAllele": "G",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_000181.3:c.1337G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000172.2:p.Trp446Ter",
        "hgvsWellDefined": "NP_000172.2:p.Trp446_Thr651delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826687756",
      "coordinates": [
        {
          "allele": "A",
          "end": 1030,
          "referenceAllele": "G",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001284290.1:c.899G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271219.1:p.Trp300Ter",
        "hgvsWellDefined": "NP_001271219.1:p.Trp300_Thr505delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022544"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822301",
      "coordinates": [
        {
          "allele": "A",
          "end": 1283,
          "referenceAllele": "G",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293104.1:c.767G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280033.1:p.Trp256Ter",
        "hgvsWellDefined": "NP_001280033.1:p.Trp256_Thr461delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822537",
      "coordinates": [
        {
          "allele": "A",
          "end": 1140,
          "referenceAllele": "G",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.1:c.680G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280034.1:p.Trp227Ter",
        "hgvsWellDefined": "NP_001280034.1:p.Trp227_Thr432delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1468,
          "referenceAllele": "G",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NR_120531.1:n.1468G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1310,
          "referenceAllele": "G",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_005250297.3:c.1184G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250354.1:p.Trp395Ter",
        "hgvsWellDefined": "XP_005250354.1:p.Trp395_Thr600delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1212,
          "referenceAllele": "G",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_011516113.1:c.836G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514415.1:p.Trp279Ter",
        "hgvsWellDefined": "XP_011514415.1:p.Trp279_Thr484delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1140,
          "referenceAllele": "G",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_011516114.1:c.665G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514416.1:p.Trp222Ter",
        "hgvsWellDefined": "XP_011514416.1:p.Trp222_Thr427delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1423,
          "referenceAllele": "G",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_927461.1:n.1423G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1229,
          "referenceAllele": "G",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_005250297.4:c.1184G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250354.1:p.Trp395Ter",
        "hgvsWellDefined": "XP_005250354.1:p.Trp395_Thr600delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1361,
          "referenceAllele": "G",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_011516114.2:c.665G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514416.1:p.Trp222Ter",
        "hgvsWellDefined": "XP_011514416.1:p.Trp222_Thr427delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1059,
          "referenceAllele": "G",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_017012091.1:c.683G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867580.1:p.Trp228Ter",
        "hgvsWellDefined": "XP_016867580.1:p.Trp228_Thr433delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_017012092.1:c.614G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867581.1:p.Trp205Ter",
        "hgvsWellDefined": "XP_016867581.1:p.Trp205_Thr410delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1208,
          "referenceAllele": "G",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_017012093.2:c.512G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867582.1:p.Trp171Ter",
        "hgvsWellDefined": "XP_016867582.1:p.Trp171_Thr376delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1229,
          "referenceAllele": "G",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744658.2:n.1229G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744659.2:n.1342G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1189,
          "referenceAllele": "G",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744660.2:n.1189G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1189,
          "referenceAllele": "G",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744661.2:n.1189G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_927461.3:n.1342G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA339852",
      "coordinates": [
        {
          "allele": "A",
          "end": 1367,
          "referenceAllele": "G",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_000181.4:c.1337G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000172.2:p.Trp446Ter",
        "hgvsWellDefined": "NP_000172.2:p.Trp446_Thr651delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662341",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304895.9:c.1337G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000181.4:c.1337G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302728.4:p.Trp446Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000172.2:p.Trp446Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826687756",
      "coordinates": [
        {
          "allele": "A",
          "end": 929,
          "referenceAllele": "G",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001284290.2:c.899G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271219.1:p.Trp300Ter",
        "hgvsWellDefined": "NP_001271219.1:p.Trp300_Thr505delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822301",
      "coordinates": [
        {
          "allele": "A",
          "end": 1182,
          "referenceAllele": "G",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293104.2:c.767G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280033.1:p.Trp256Ter",
        "hgvsWellDefined": "NP_001280033.1:p.Trp256_Thr461delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822537",
      "coordinates": [
        {
          "allele": "A",
          "end": 1039,
          "referenceAllele": "G",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.2:c.680G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280034.1:p.Trp227Ter",
        "hgvsWellDefined": "NP_001280034.1:p.Trp227_Thr432delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1367,
          "referenceAllele": "G",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NR_120531.2:n.1367G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}