{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353686835",
  "communityStandardTitle": [
    "NM_000158.4(GBE1):c.143+2T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1055385[alleleid]",
        "alleleId": 1055385,
        "preferredName": "NM_000158.4(GBE1):c.143+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1066767",
        "RCV": [
          "RCV001377854",
          "RCV001826132"
        ],
        "variationId": 1066767
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81810524A>G?assembly=hg19",
        "id": "chr3:g.81810524A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81761373A>G?assembly=hg38",
        "id": "chr3:g.81761373A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2107250439",
        "rs": 2107250439
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-81761373-A-G?dataset=gnomad_r4",
        "id": "3-81761373-A-G",
        "variant": "3:81761373 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 81761373,
          "referenceAllele": "A",
          "start": 81761372
        }
      ],
      "hgvs": [
        "NC_000003.12:g.81761373A>G",
        "CM000665.2:g.81761373A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 81810524,
          "referenceAllele": "A",
          "start": 81810523
        }
      ],
      "hgvs": [
        "NC_000003.11:g.81810524A>G",
        "CM000665.1:g.81810524A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 81893214,
          "referenceAllele": "A",
          "start": 81893213
        }
      ],
      "hgvs": [
        "NC_000003.10:g.81893214A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5428,
          "referenceAllele": "T",
          "start": 5427
        }
      ],
      "hgvs": [
        "NG_011810.1:g.5428T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001993"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 271,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 271,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000429644.7:c.143+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410833.2:n.143+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755279",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000429644.7:c.143+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000158.4:c.143+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410833.2:n.143+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000149.4:n.143+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 787,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 787,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000429644.6:c.143+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410833.2:n.143+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.3:c.143+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000149.3:n.143+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 271,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 271,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.4:c.143+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000149.4:n.143+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662331",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000429644.7:c.143+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000158.4:c.143+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410833.2:n.143+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000149.4:n.143+2T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}