{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353684655",
  "communityStandardTitle": [
    "NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=452788[alleleid]",
        "alleleId": 452788,
        "preferredName": "NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/456517",
        "RCV": [
          "RCV000526226",
          "RCV002483363"
        ],
        "variationId": 456517
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81627124G>C?assembly=hg19",
        "id": "chr3:g.81627124G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81577973G>C?assembly=hg38",
        "id": "chr3:g.81577973G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852888",
        "rs": 137852888
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 81577973,
          "referenceAllele": "G",
          "start": 81577972
        }
      ],
      "hgvs": [
        "NC_000003.12:g.81577973G>C",
        "CM000665.2:g.81577973G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 81627124,
          "referenceAllele": "G",
          "start": 81627123
        }
      ],
      "hgvs": [
        "NC_000003.11:g.81627124G>C",
        "CM000665.1:g.81627124G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 81709814,
          "referenceAllele": "G",
          "start": 81709813
        }
      ],
      "hgvs": [
        "NC_000003.10:g.81709814G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 188828,
          "referenceAllele": "C",
          "start": 188827
        }
      ],
      "hgvs": [
        "NG_011810.1:g.188828C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001993"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1698,
          "referenceAllele": "C",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000429644.7:c.1570C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410833.2:p.Arg524Gly",
        "hgvsWellDefined": "ENSP00000410833.2:p.Arg524Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755279",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000429644.7:c.1570C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000158.4:c.1570C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410833.2:p.Arg524Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000149.4:p.Arg524Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2214,
          "referenceAllele": "C",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000429644.6:c.1570C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410833.2:p.Arg524Gly",
        "hgvsWellDefined": "ENSP00000410833.2:p.Arg524Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1500,
          "referenceAllele": "C",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000489715.1:c.1447C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419638.1:p.Arg483Gly",
        "hgvsWellDefined": "ENSP00000419638.1:p.Arg483Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327720"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658672983",
      "coordinates": [
        {
          "allele": "G",
          "end": 1853,
          "referenceAllele": "C",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.3:c.1570C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000149.3:p.Arg524Gly",
        "hgvsWellDefined": "NP_000149.3:p.Arg524Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915961282",
      "coordinates": [
        {
          "allele": "G",
          "end": 1698,
          "referenceAllele": "C",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.4:c.1570C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000149.4:p.Arg524Gly",
        "hgvsWellDefined": "NP_000149.4:p.Arg524Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662331",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000429644.7:c.1570C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000158.4:c.1570C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410833.2:p.Arg524Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000149.4:p.Arg524Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}