{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2631689",
  "communityStandardTitle": [
    "NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1025023[alleleid]",
        "alleleId": 1025023,
        "preferredName": "NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1047583",
        "RCV": [
          "RCV001352317",
          "RCV002547553"
        ],
        "variationId": 1047583
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-135975425-G-A",
        "id": "3-135975425-G-A",
        "variant": "3:135975425 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.135975425G>A?assembly=hg19",
        "id": "chr3:g.135975425G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136256583G>A?assembly=hg38",
        "id": "chr3:g.136256583G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757534748",
        "rs": 757534748
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-135975425-G-A?dataset=gnomad_r2_1",
        "id": "3-135975425-G-A",
        "variant": "3:135975425 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-136256583-G-A?dataset=gnomad_r3",
        "id": "3-136256583-G-A",
        "variant": "3:136256583 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-136256583-G-A?dataset=gnomad_r4",
        "id": "3-136256583-G-A",
        "variant": "3:136256583 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 136256583,
          "referenceAllele": "G",
          "start": 136256582
        }
      ],
      "hgvs": [
        "NC_000003.12:g.136256583G>A",
        "CM000665.2:g.136256583G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 135975425,
          "referenceAllele": "G",
          "start": 135975424
        }
      ],
      "hgvs": [
        "NC_000003.11:g.135975425G>A",
        "CM000665.1:g.135975425G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 137458115,
          "referenceAllele": "G",
          "start": 137458114
        }
      ],
      "hgvs": [
        "NC_000003.10:g.137458115G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11259,
          "referenceAllele": "G",
          "start": 11258
        }
      ],
      "hgvs": [
        "NG_008939.1:g.11259G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001317"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.9:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Arg111Gln",
        "hgvsWellDefined": "ENSP00000251654.4:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741494",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.332G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.332G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Arg111Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Arg111Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.8:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Arg111Gln",
        "hgvsWellDefined": "ENSP00000251654.4:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000459873.1:c.83G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419293.1:p.Arg28Gln",
        "hgvsWellDefined": "ENSP00000419293.1:p.Arg28Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 199,
          "referenceAllele": "G",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000462542.5:c.199G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 324,
          "endIntronDirection": "+",
          "endIntronOffset": 608,
          "referenceAllele": "G",
          "start": 324,
          "startIntronDirection": "+",
          "startIntronOffset": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000462637.5:c.303+608G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420391.1:n.303+608G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000465176.5:n.294G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "G",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000465423.5:c.419G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419263.1:p.Arg140Gln",
        "hgvsWellDefined": "ENSP00000419263.1:p.Arg140Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "referenceAllele": "G",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000466072.5:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420158.1:p.Arg111Gln",
        "hgvsWellDefined": "ENSP00000420158.1:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "referenceAllele": "G",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000468777.5:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419129.1:p.Arg111Gln",
        "hgvsWellDefined": "ENSP00000419129.1:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "referenceAllele": "G",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000469217.5:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419027.1:p.Arg111Gln",
        "hgvsWellDefined": "ENSP00000419027.1:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "referenceAllele": "G",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000471595.5:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417549.1:p.Arg111Gln",
        "hgvsWellDefined": "ENSP00000417549.1:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 168,
          "endIntronDirection": "+",
          "endIntronOffset": 6025,
          "referenceAllele": "G",
          "start": 168,
          "startIntronDirection": "+",
          "startIntronOffset": 6024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000474833.5:n.168+6025G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 246,
          "referenceAllele": "G",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000475214.5:n.246G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000478469.5:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420759.1:p.Arg111Gln",
        "hgvsWellDefined": "ENSP00000420759.1:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 114,
          "endIntronDirection": "-",
          "endIntronOffset": 5380,
          "referenceAllele": "G",
          "start": 114,
          "startIntronDirection": "-",
          "startIntronOffset": 5381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000482086.5:c.94-5381G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417253.1:n.94-5381G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "referenceAllele": "G",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000483687.5:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420639.1:p.Arg111Gln",
        "hgvsWellDefined": "ENSP00000420639.1:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "referenceAllele": "G",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000484181.5:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417937.1:p.Arg111Gln",
        "hgvsWellDefined": "ENSP00000417937.1:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "referenceAllele": "G",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000490504.5:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418307.1:p.Arg111Gln",
        "hgvsWellDefined": "ENSP00000418307.1:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000494742.5:c.83G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418020.1:p.Arg28Gln",
        "hgvsWellDefined": "ENSP00000418020.1:p.Arg28Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331597"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825187235",
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.4:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Arg111Gln",
        "hgvsWellDefined": "NP_000523.2:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499241137",
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.1:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Arg111Gln",
        "hgvsWellDefined": "NP_001171485.1:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "XM_011512873.1:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511175.1:p.Arg111Gln",
        "hgvsWellDefined": "XP_011511175.1:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "XM_011512873.2:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511175.1:p.Arg111Gln",
        "hgvsWellDefined": "XP_011511175.1:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825187235",
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.5:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Arg111Gln",
        "hgvsWellDefined": "NP_000523.2:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.332G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.332G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Arg111Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Arg111Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499241137",
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.2:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Arg111Gln",
        "hgvsWellDefined": "NP_001171485.1:p.Arg111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713549"
    }
  ],
  "type": "nucleotide"
}