{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353689051",
  "communityStandardTitle": [
    "NM_000158.4(GBE1):c.321G>A (p.Trp107Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1366741[alleleid]",
        "alleleId": 1366741,
        "preferredName": "NM_000158.4(GBE1):c.321G>A (p.Trp107Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1454134",
        "RCV": [
          "RCV001960590",
          "RCV003471152"
        ],
        "variationId": 1454134
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81720097C>T?assembly=hg19",
        "id": "chr3:g.81720097C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81670946C>T?assembly=hg38",
        "id": "chr3:g.81670946C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2107114808",
        "rs": 2107114808
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-81670946-C-T?dataset=gnomad_r4",
        "id": "3-81670946-C-T",
        "variant": "3:81670946 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 81670946,
          "referenceAllele": "C",
          "start": 81670945
        }
      ],
      "hgvs": [
        "NC_000003.12:g.81670946C>T",
        "CM000665.2:g.81670946C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 81720097,
          "referenceAllele": "C",
          "start": 81720096
        }
      ],
      "hgvs": [
        "NC_000003.11:g.81720097C>T",
        "CM000665.1:g.81720097C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 81802787,
          "referenceAllele": "C",
          "start": 81802786
        }
      ],
      "hgvs": [
        "NC_000003.10:g.81802787C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 95855,
          "referenceAllele": "G",
          "start": 95854
        }
      ],
      "hgvs": [
        "NG_011810.1:g.95855G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001993"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "referenceAllele": "G",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000429644.7:c.321G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410833.2:p.Trp107Ter",
        "hgvsWellDefined": "ENSP00000410833.2:p.Trp107_Asn702delinsAsnProPheSerTyrProTyrLysLysLeuAspTyrGlyLysTrpGluLeuTyrIleProProLysGlnAsnLysSerValLeuValProHisGlySerLysLeuLysValValIleThrSerLysSerGlyGluIleLeuTyrArgIleSerProTrpAlaLysTyrValValArgGluGlyAspAsnValAsnTyrAspTrpIleHisTrpAspProGluHisSerTyrGluPheLysHisSerArgProLysLysProArgSerLeuArgIleTyrGluSerHisValGlyIleSerSerHisGluGlyLysValAlaSerTyrLysHisPheThrCysAsnValLeuProArgIleLysGlyLeuGlyTyrAsnCysIleGlnLeuMetAlaIleMetGluHisAlaTyrTyrAlaSerPheGlyTyrGlnIleThrSerPhePheAlaAlaSerSerArgTyrGlyThrProGluGluLeuGlnGluLeuValAspThrAlaHisSerMetGlyIleIleValLeuLeuAspValValHisSerHisAlaSerLysAsnSerAlaAspGlyLeuAsnMetPheAspGlyThrAspSerCysTyrPheHisSerGlyProArgGlyThrHisAspLeuTrpAspSerArgLeuPheAlaTyrSerSerTrpGluIleLeuArgPheLeuLeuSerAsnIleArgTrpTrpLeuGluGluTyrArgPheAspGlyPheArgPheAspGlyValThrSerMetLeuTyrHisHisHisGlyValGlyGlnGlyPheSerGlyAspTyrSerGluTyrPheGlyLeuGlnValAspGluAspAlaLeuThrTyrLeuMetLeuAlaAsnHisLeuValHisThrLeuCysProAspSerIleThrIleAlaGluAspValSerGlyMetProAlaLeuCysSerProIleSerGlnGlyGlyGlyGlyPheAspTyrArgLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755279",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "Ensembl": {
            "hgvs": "ENST00000429644.7:c.321G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000158.4:c.321G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410833.2:p.Trp107Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000149.4:p.Trp107Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000429644.6:c.321G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410833.2:p.Trp107Ter",
        "hgvsWellDefined": "ENSP00000410833.2:p.Trp107_Asn702delinsAsnProPheSerTyrProTyrLysLysLeuAspTyrGlyLysTrpGluLeuTyrIleProProLysGlnAsnLysSerValLeuValProHisGlySerLysLeuLysValValIleThrSerLysSerGlyGluIleLeuTyrArgIleSerProTrpAlaLysTyrValValArgGluGlyAspAsnValAsnTyrAspTrpIleHisTrpAspProGluHisSerTyrGluPheLysHisSerArgProLysLysProArgSerLeuArgIleTyrGluSerHisValGlyIleSerSerHisGluGlyLysValAlaSerTyrLysHisPheThrCysAsnValLeuProArgIleLysGlyLeuGlyTyrAsnCysIleGlnLeuMetAlaIleMetGluHisAlaTyrTyrAlaSerPheGlyTyrGlnIleThrSerPhePheAlaAlaSerSerArgTyrGlyThrProGluGluLeuGlnGluLeuValAspThrAlaHisSerMetGlyIleIleValLeuLeuAspValValHisSerHisAlaSerLysAsnSerAlaAspGlyLeuAsnMetPheAspGlyThrAspSerCysTyrPheHisSerGlyProArgGlyThrHisAspLeuTrpAspSerArgLeuPheAlaTyrSerSerTrpGluIleLeuArgPheLeuLeuSerAsnIleArgTrpTrpLeuGluGluTyrArgPheAspGlyPheArgPheAspGlyValThrSerMetLeuTyrHisHisHisGlyValGlyGlnGlyPheSerGlyAspTyrSerGluTyrPheGlyLeuGlnValAspGluAspAlaLeuThrTyrLeuMetLeuAlaAsnHisLeuValHisThrLeuCysProAspSerIleThrIleAlaGluAspValSerGlyMetProAlaLeuCysSerProIleSerGlnGlyGlyGlyGlyPheAspTyrArgLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37,
          "referenceAllele": "G",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000477426.1:n.37G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 251,
          "referenceAllele": "G",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000489715.1:c.198G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419638.1:p.Trp66Ter",
        "hgvsWellDefined": "ENSP00000419638.1:p.Trp66_Asn661delinsAsnProPheSerTyrProTyrLysLysLeuAspTyrGlyLysTrpGluLeuTyrIleProProLysGlnAsnLysSerValLeuValProHisGlySerLysLeuLysValValIleThrSerLysSerGlyGluIleLeuTyrArgIleSerProTrpAlaLysTyrValValArgGluGlyAspAsnValAsnTyrAspTrpIleHisTrpAspProGluHisSerTyrGluPheLysHisSerArgProLysLysProArgSerLeuArgIleTyrGluSerHisValGlyIleSerSerHisGluGlyLysValAlaSerTyrLysHisPheThrCysAsnValLeuProArgIleLysGlyLeuGlyTyrAsnCysIleGlnLeuMetAlaIleMetGluHisAlaTyrTyrAlaSerPheGlyTyrGlnIleThrSerPhePheAlaAlaSerSerArgTyrGlyThrProGluGluLeuGlnGluLeuValAspThrAlaHisSerMetGlyIleIleValLeuLeuAspValValHisSerHisAlaSerLysAsnSerAlaAspGlyLeuAsnMetPheAspGlyThrAspSerCysTyrPheHisSerGlyProArgGlyThrHisAspLeuTrpAspSerArgLeuPheAlaTyrSerSerTrpGluIleLeuArgPheLeuLeuSerAsnIleArgTrpTrpLeuGluGluTyrArgPheAspGlyPheArgPheAspGlyValThrSerMetLeuTyrHisHisHisGlyValGlyGlnGlyPheSerGlyAspTyrSerGluTyrPheGlyLeuGlnValAspGluAspAlaLeuThrTyrLeuMetLeuAlaAsnHisLeuValHisThrLeuCysProAspSerIleThrIleAlaGluAspValSerGlyMetProAlaLeuCysSerProIleSerGlnGlyGlyGlyGlyPheAspTyrArgLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 604,
          "referenceAllele": "G",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.3:c.321G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000149.3:p.Trp107Ter",
        "hgvsWellDefined": "NP_000149.3:p.Trp107_Asn702delinsAsnProPheSerTyrProTyrLysLysLeuAspTyrGlyLysTrpGluLeuTyrIleProProLysGlnAsnLysSerValLeuValProHisGlySerLysLeuLysValValIleThrSerLysSerGlyGluIleLeuTyrArgIleSerProTrpAlaLysTyrValValArgGluGlyAspAsnValAsnTyrAspTrpIleHisTrpAspProGluHisSerTyrGluPheLysHisSerArgProLysLysProArgSerLeuArgIleTyrGluSerHisValGlyIleSerSerHisGluGlyLysValAlaSerTyrLysHisPheThrCysAsnValLeuProArgIleLysGlyLeuGlyTyrAsnCysIleGlnLeuMetAlaIleMetGluHisAlaTyrTyrAlaSerPheGlyTyrGlnIleThrSerPhePheAlaAlaSerSerArgTyrGlyThrProGluGluLeuGlnGluLeuValAspThrAlaHisSerMetGlyIleIleValLeuLeuAspValValHisSerHisAlaSerLysAsnSerAlaAspGlyLeuAsnMetPheAspGlyThrAspSerCysTyrPheHisSerGlyProArgGlyThrHisAspLeuTrpAspSerArgLeuPheAlaTyrSerSerTrpGluValLeuArgPheLeuLeuSerAsnIleArgTrpTrpLeuGluGluTyrArgPheAspGlyPheArgPheAspGlyValThrSerMetLeuTyrHisHisHisGlyValGlyGlnGlyPheSerGlyAspTyrSerGluTyrPheGlyLeuGlnValAspGluAspAlaLeuThrTyrLeuMetLeuAlaAsnHisLeuValHisThrLeuCysProAspSerIleThrIleAlaGluAspValSerGlyMetProAlaLeuCysSerProIleSerGlnGlyGlyGlyGlyPheAspTyrArgLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573163176",
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "referenceAllele": "G",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.4:c.321G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000149.4:p.Trp107Ter",
        "hgvsWellDefined": "NP_000149.4:p.Trp107_Asn702delinsAsnProPheSerTyrProTyrLysLysLeuAspTyrGlyLysTrpGluLeuTyrIleProProLysGlnAsnLysSerValLeuValProHisGlySerLysLeuLysValValIleThrSerLysSerGlyGluIleLeuTyrArgIleSerProTrpAlaLysTyrValValArgGluGlyAspAsnValAsnTyrAspTrpIleHisTrpAspProGluHisSerTyrGluPheLysHisSerArgProLysLysProArgSerLeuArgIleTyrGluSerHisValGlyIleSerSerHisGluGlyLysValAlaSerTyrLysHisPheThrCysAsnValLeuProArgIleLysGlyLeuGlyTyrAsnCysIleGlnLeuMetAlaIleMetGluHisAlaTyrTyrAlaSerPheGlyTyrGlnIleThrSerPhePheAlaAlaSerSerArgTyrGlyThrProGluGluLeuGlnGluLeuValAspThrAlaHisSerMetGlyIleIleValLeuLeuAspValValHisSerHisAlaSerLysAsnSerAlaAspGlyLeuAsnMetPheAspGlyThrAspSerCysTyrPheHisSerGlyProArgGlyThrHisAspLeuTrpAspSerArgLeuPheAlaTyrSerSerTrpGluIleLeuArgPheLeuLeuSerAsnIleArgTrpTrpLeuGluGluTyrArgPheAspGlyPheArgPheAspGlyValThrSerMetLeuTyrHisHisHisGlyValGlyGlnGlyPheSerGlyAspTyrSerGluTyrPheGlyLeuGlnValAspGluAspAlaLeuThrTyrLeuMetLeuAlaAsnHisLeuValHisThrLeuCysProAspSerIleThrIleAlaGluAspValSerGlyMetProAlaLeuCysSerProIleSerGlnGlyGlyGlyGlyPheAspTyrArgLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662331",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000429644.7:c.321G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000158.4:c.321G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410833.2:p.Trp107Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000149.4:p.Trp107Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}