{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353689016",
  "communityStandardTitle": [
    "NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=923358[alleleid]",
        "alleleId": 923358,
        "preferredName": "NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/952612",
        "RCV": [
          "RCV001224752",
          "RCV003462766"
        ],
        "variationId": 952612
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81720082G>T?assembly=hg19",
        "id": "chr3:g.81720082G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81670931G>T?assembly=hg38",
        "id": "chr3:g.81670931G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773473771",
        "rs": 773473771
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-81670931-G-T?dataset=gnomad_r4",
        "id": "3-81670931-G-T",
        "variant": "3:81670931 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 81670931,
          "referenceAllele": "G",
          "start": 81670930
        }
      ],
      "hgvs": [
        "NC_000003.12:g.81670931G>T",
        "CM000665.2:g.81670931G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 81720082,
          "referenceAllele": "G",
          "start": 81720081
        }
      ],
      "hgvs": [
        "NC_000003.11:g.81720082G>T",
        "CM000665.1:g.81720082G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 81802772,
          "referenceAllele": "G",
          "start": 81802771
        }
      ],
      "hgvs": [
        "NC_000003.10:g.81802772G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 95870,
          "referenceAllele": "C",
          "start": 95869
        }
      ],
      "hgvs": [
        "NG_011810.1:g.95870C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001993"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 464,
          "referenceAllele": "C",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000429644.7:c.336C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410833.2:p.Tyr112Ter",
        "hgvsWellDefined": "ENSP00000410833.2:p.Tyr112_Asn702delinsProTyrLysLysLeuAspTyrGlyLysTrpGluLeuTyrIleProProLysGlnAsnLysSerValLeuValProHisGlySerLysLeuLysValValIleThrSerLysSerGlyGluIleLeuTyrArgIleSerProTrpAlaLysTyrValValArgGluGlyAspAsnValAsnTyrAspTrpIleHisTrpAspProGluHisSerTyrGluPheLysHisSerArgProLysLysProArgSerLeuArgIleTyrGluSerHisValGlyIleSerSerHisGluGlyLysValAlaSerTyrLysHisPheThrCysAsnValLeuProArgIleLysGlyLeuGlyTyrAsnCysIleGlnLeuMetAlaIleMetGluHisAlaTyrTyrAlaSerPheGlyTyrGlnIleThrSerPhePheAlaAlaSerSerArgTyrGlyThrProGluGluLeuGlnGluLeuValAspThrAlaHisSerMetGlyIleIleValLeuLeuAspValValHisSerHisAlaSerLysAsnSerAlaAspGlyLeuAsnMetPheAspGlyThrAspSerCysTyrPheHisSerGlyProArgGlyThrHisAspLeuTrpAspSerArgLeuPheAlaTyrSerSerTrpGluIleLeuArgPheLeuLeuSerAsnIleArgTrpTrpLeuGluGluTyrArgPheAspGlyPheArgPheAspGlyValThrSerMetLeuTyrHisHisHisGlyValGlyGlnGlyPheSerGlyAspTyrSerGluTyrPheGlyLeuGlnValAspGluAspAlaLeuThrTyrLeuMetLeuAlaAsnHisLeuValHisThrLeuCysProAspSerIleThrIleAlaGluAspValSerGlyMetProAlaLeuCysSerProIleSerGlnGlyGlyGlyGlyPheAspTyrArgLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755279",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000429644.7:c.336C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000158.4:c.336C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410833.2:p.Tyr112Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000149.4:p.Tyr112Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 980,
          "referenceAllele": "C",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000429644.6:c.336C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410833.2:p.Tyr112Ter",
        "hgvsWellDefined": "ENSP00000410833.2:p.Tyr112_Asn702delinsProTyrLysLysLeuAspTyrGlyLysTrpGluLeuTyrIleProProLysGlnAsnLysSerValLeuValProHisGlySerLysLeuLysValValIleThrSerLysSerGlyGluIleLeuTyrArgIleSerProTrpAlaLysTyrValValArgGluGlyAspAsnValAsnTyrAspTrpIleHisTrpAspProGluHisSerTyrGluPheLysHisSerArgProLysLysProArgSerLeuArgIleTyrGluSerHisValGlyIleSerSerHisGluGlyLysValAlaSerTyrLysHisPheThrCysAsnValLeuProArgIleLysGlyLeuGlyTyrAsnCysIleGlnLeuMetAlaIleMetGluHisAlaTyrTyrAlaSerPheGlyTyrGlnIleThrSerPhePheAlaAlaSerSerArgTyrGlyThrProGluGluLeuGlnGluLeuValAspThrAlaHisSerMetGlyIleIleValLeuLeuAspValValHisSerHisAlaSerLysAsnSerAlaAspGlyLeuAsnMetPheAspGlyThrAspSerCysTyrPheHisSerGlyProArgGlyThrHisAspLeuTrpAspSerArgLeuPheAlaTyrSerSerTrpGluIleLeuArgPheLeuLeuSerAsnIleArgTrpTrpLeuGluGluTyrArgPheAspGlyPheArgPheAspGlyValThrSerMetLeuTyrHisHisHisGlyValGlyGlnGlyPheSerGlyAspTyrSerGluTyrPheGlyLeuGlnValAspGluAspAlaLeuThrTyrLeuMetLeuAlaAsnHisLeuValHisThrLeuCysProAspSerIleThrIleAlaGluAspValSerGlyMetProAlaLeuCysSerProIleSerGlnGlyGlyGlyGlyPheAspTyrArgLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 52,
          "referenceAllele": "C",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000477426.1:n.52C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 266,
          "referenceAllele": "C",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000489715.1:c.213C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419638.1:p.Tyr71Ter",
        "hgvsWellDefined": "ENSP00000419638.1:p.Tyr71_Asn661delinsProTyrLysLysLeuAspTyrGlyLysTrpGluLeuTyrIleProProLysGlnAsnLysSerValLeuValProHisGlySerLysLeuLysValValIleThrSerLysSerGlyGluIleLeuTyrArgIleSerProTrpAlaLysTyrValValArgGluGlyAspAsnValAsnTyrAspTrpIleHisTrpAspProGluHisSerTyrGluPheLysHisSerArgProLysLysProArgSerLeuArgIleTyrGluSerHisValGlyIleSerSerHisGluGlyLysValAlaSerTyrLysHisPheThrCysAsnValLeuProArgIleLysGlyLeuGlyTyrAsnCysIleGlnLeuMetAlaIleMetGluHisAlaTyrTyrAlaSerPheGlyTyrGlnIleThrSerPhePheAlaAlaSerSerArgTyrGlyThrProGluGluLeuGlnGluLeuValAspThrAlaHisSerMetGlyIleIleValLeuLeuAspValValHisSerHisAlaSerLysAsnSerAlaAspGlyLeuAsnMetPheAspGlyThrAspSerCysTyrPheHisSerGlyProArgGlyThrHisAspLeuTrpAspSerArgLeuPheAlaTyrSerSerTrpGluIleLeuArgPheLeuLeuSerAsnIleArgTrpTrpLeuGluGluTyrArgPheAspGlyPheArgPheAspGlyValThrSerMetLeuTyrHisHisHisGlyValGlyGlnGlyPheSerGlyAspTyrSerGluTyrPheGlyLeuGlnValAspGluAspAlaLeuThrTyrLeuMetLeuAlaAsnHisLeuValHisThrLeuCysProAspSerIleThrIleAlaGluAspValSerGlyMetProAlaLeuCysSerProIleSerGlnGlyGlyGlyGlyPheAspTyrArgLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.3:c.336C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000149.3:p.Tyr112Ter",
        "hgvsWellDefined": "NP_000149.3:p.Tyr112_Asn702delinsProTyrLysLysLeuAspTyrGlyLysTrpGluLeuTyrIleProProLysGlnAsnLysSerValLeuValProHisGlySerLysLeuLysValValIleThrSerLysSerGlyGluIleLeuTyrArgIleSerProTrpAlaLysTyrValValArgGluGlyAspAsnValAsnTyrAspTrpIleHisTrpAspProGluHisSerTyrGluPheLysHisSerArgProLysLysProArgSerLeuArgIleTyrGluSerHisValGlyIleSerSerHisGluGlyLysValAlaSerTyrLysHisPheThrCysAsnValLeuProArgIleLysGlyLeuGlyTyrAsnCysIleGlnLeuMetAlaIleMetGluHisAlaTyrTyrAlaSerPheGlyTyrGlnIleThrSerPhePheAlaAlaSerSerArgTyrGlyThrProGluGluLeuGlnGluLeuValAspThrAlaHisSerMetGlyIleIleValLeuLeuAspValValHisSerHisAlaSerLysAsnSerAlaAspGlyLeuAsnMetPheAspGlyThrAspSerCysTyrPheHisSerGlyProArgGlyThrHisAspLeuTrpAspSerArgLeuPheAlaTyrSerSerTrpGluValLeuArgPheLeuLeuSerAsnIleArgTrpTrpLeuGluGluTyrArgPheAspGlyPheArgPheAspGlyValThrSerMetLeuTyrHisHisHisGlyValGlyGlnGlyPheSerGlyAspTyrSerGluTyrPheGlyLeuGlnValAspGluAspAlaLeuThrTyrLeuMetLeuAlaAsnHisLeuValHisThrLeuCysProAspSerIleThrIleAlaGluAspValSerGlyMetProAlaLeuCysSerProIleSerGlnGlyGlyGlyGlyPheAspTyrArgLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139667992",
      "coordinates": [
        {
          "allele": "A",
          "end": 464,
          "referenceAllele": "C",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.4:c.336C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000149.4:p.Tyr112Ter",
        "hgvsWellDefined": "NP_000149.4:p.Tyr112_Asn702delinsProTyrLysLysLeuAspTyrGlyLysTrpGluLeuTyrIleProProLysGlnAsnLysSerValLeuValProHisGlySerLysLeuLysValValIleThrSerLysSerGlyGluIleLeuTyrArgIleSerProTrpAlaLysTyrValValArgGluGlyAspAsnValAsnTyrAspTrpIleHisTrpAspProGluHisSerTyrGluPheLysHisSerArgProLysLysProArgSerLeuArgIleTyrGluSerHisValGlyIleSerSerHisGluGlyLysValAlaSerTyrLysHisPheThrCysAsnValLeuProArgIleLysGlyLeuGlyTyrAsnCysIleGlnLeuMetAlaIleMetGluHisAlaTyrTyrAlaSerPheGlyTyrGlnIleThrSerPhePheAlaAlaSerSerArgTyrGlyThrProGluGluLeuGlnGluLeuValAspThrAlaHisSerMetGlyIleIleValLeuLeuAspValValHisSerHisAlaSerLysAsnSerAlaAspGlyLeuAsnMetPheAspGlyThrAspSerCysTyrPheHisSerGlyProArgGlyThrHisAspLeuTrpAspSerArgLeuPheAlaTyrSerSerTrpGluIleLeuArgPheLeuLeuSerAsnIleArgTrpTrpLeuGluGluTyrArgPheAspGlyPheArgPheAspGlyValThrSerMetLeuTyrHisHisHisGlyValGlyGlnGlyPheSerGlyAspTyrSerGluTyrPheGlyLeuGlnValAspGluAspAlaLeuThrTyrLeuMetLeuAlaAsnHisLeuValHisThrLeuCysProAspSerIleThrIleAlaGluAspValSerGlyMetProAlaLeuCysSerProIleSerGlnGlyGlyGlyGlyPheAspTyrArgLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662331",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000429644.7:c.336C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000158.4:c.336C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410833.2:p.Tyr112Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000149.4:p.Tyr112Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}