{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2500021",
  "communityStandardTitle": [
    "NM_000158.4(GBE1):c.293T>G (p.Val98Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1332602[alleleid]",
        "alleleId": 1332602,
        "preferredName": "NM_000158.4(GBE1):c.293T>G (p.Val98Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1341396",
        "RCV": [
          "RCV002542782",
          "RCV003481134",
          "RCV003333181",
          "RCV001829310"
        ],
        "variationId": 1341396
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-81754615-A-C",
        "id": "3-81754615-A-C",
        "variant": "3:81754615 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81754615A>C?assembly=hg19",
        "id": "chr3:g.81754615A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81705464A>C?assembly=hg38",
        "id": "chr3:g.81705464A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/775486403",
        "rs": 775486403
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-81754615-A-C?dataset=gnomad_r2_1",
        "id": "3-81754615-A-C",
        "variant": "3:81754615 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-81705464-A-C?dataset=gnomad_r3",
        "id": "3-81705464-A-C",
        "variant": "3:81705464 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-81705464-A-C?dataset=gnomad_r4",
        "id": "3-81705464-A-C",
        "variant": "3:81705464 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 81705464,
          "referenceAllele": "A",
          "start": 81705463
        }
      ],
      "hgvs": [
        "NC_000003.12:g.81705464A>C",
        "CM000665.2:g.81705464A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 81754615,
          "referenceAllele": "A",
          "start": 81754614
        }
      ],
      "hgvs": [
        "NC_000003.11:g.81754615A>C",
        "CM000665.1:g.81754615A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 81837305,
          "referenceAllele": "A",
          "start": 81837304
        }
      ],
      "hgvs": [
        "NC_000003.10:g.81837305A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 61337,
          "referenceAllele": "T",
          "start": 61336
        }
      ],
      "hgvs": [
        "NG_011810.1:g.61337T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001993"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "referenceAllele": "T",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000429644.7:c.293T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410833.2:p.Val98Gly",
        "hgvsWellDefined": "ENSP00000410833.2:p.Val98Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755279",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000429644.7:c.293T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000158.4:c.293T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410833.2:p.Val98Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000149.4:p.Val98Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 937,
          "referenceAllele": "T",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000429644.6:c.293T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410833.2:p.Val98Gly",
        "hgvsWellDefined": "ENSP00000410833.2:p.Val98Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 223,
          "referenceAllele": "T",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000489715.1:c.170T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419638.1:p.Val57Gly",
        "hgvsWellDefined": "ENSP00000419638.1:p.Val57Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327720"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 576,
          "referenceAllele": "T",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.3:c.293T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000149.3:p.Val98Gly",
        "hgvsWellDefined": "NP_000149.3:p.Val98Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573061592",
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "referenceAllele": "T",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.4:c.293T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000149.4:p.Val98Gly",
        "hgvsWellDefined": "NP_000149.4:p.Val98Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662331",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000429644.7:c.293T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000158.4:c.293T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410833.2:p.Val98Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000149.4:p.Val98Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}