{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353688796",
  "communityStandardTitle": [
    "NM_000158.4(GBE1):c.430-1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2144575[alleleid]",
        "alleleId": 2144575,
        "preferredName": "NM_000158.4(GBE1):c.430-1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2089245",
        "RCV": [
          "RCV003012050",
          "RCV003464651"
        ],
        "variationId": 2089245
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81699073C>G?assembly=hg19",
        "id": "chr3:g.81699073C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81649922C>G?assembly=hg38",
        "id": "chr3:g.81649922C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2471828509",
        "rs": 2471828509
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 81649922,
          "referenceAllele": "C",
          "start": 81649921
        }
      ],
      "hgvs": [
        "NC_000003.12:g.81649922C>G",
        "CM000665.2:g.81649922C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 81699073,
          "referenceAllele": "C",
          "start": 81699072
        }
      ],
      "hgvs": [
        "NC_000003.11:g.81699073C>G",
        "CM000665.1:g.81699073C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 81781763,
          "referenceAllele": "C",
          "start": 81781762
        }
      ],
      "hgvs": [
        "NC_000003.10:g.81781763C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 116879,
          "referenceAllele": "G",
          "start": 116878
        }
      ],
      "hgvs": [
        "NG_011810.1:g.116879G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001993"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 557,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000429644.7:c.430-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410833.2:n.430-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755279",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000429644.7:c.430-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000158.4:c.430-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410833.2:n.430-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000149.4:n.430-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1073,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1073,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000429644.6:c.430-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410833.2:n.430-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000486920.1:n.425G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 359,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000489715.1:c.307-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419638.1:n.307-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327720"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 712,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 712,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.3:c.430-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000149.3:n.430-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 557,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.4:c.430-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000149.4:n.430-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662331",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000429644.7:c.430-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000158.4:c.430-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410833.2:n.430-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000149.4:n.430-1G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}