{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354738626",
  "communityStandardTitle": [
    "NM_000532.5(PCCB):c.303+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1391144[alleleid]",
        "alleleId": 1391144,
        "preferredName": "NM_000532.5(PCCB):c.303+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1473264",
        "RCV": [
          "RCV002005208"
        ],
        "variationId": 1473264
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.135974818G>T?assembly=hg19",
        "id": "chr3:g.135974818G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136255976G>T?assembly=hg38",
        "id": "chr3:g.136255976G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1941662983",
        "rs": 1941662983
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-136255976-G-T?dataset=gnomad_r4",
        "id": "3-136255976-G-T",
        "variant": "3:136255976 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 136255976,
          "referenceAllele": "G",
          "start": 136255975
        }
      ],
      "hgvs": [
        "NC_000003.12:g.136255976G>T",
        "CM000665.2:g.136255976G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 135974818,
          "referenceAllele": "G",
          "start": 135974817
        }
      ],
      "hgvs": [
        "NC_000003.11:g.135974818G>T",
        "CM000665.1:g.135974818G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 137457508,
          "referenceAllele": "G",
          "start": 137457507
        }
      ],
      "hgvs": [
        "NC_000003.10:g.137457508G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10652,
          "referenceAllele": "G",
          "start": 10651
        }
      ],
      "hgvs": [
        "NG_008939.1:g.10652G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001317"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 339,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 339,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.9:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741494",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.303+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.303+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:n.303+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:n.303+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 373,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.8:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 187,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 187,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000459873.1:c.54+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419293.1:n.54+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 170,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 170,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000462542.5:c.170+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 324,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000462637.5:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420391.1:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 119,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000465176.5:n.119+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 397,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000465423.5:c.390+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419263.1:n.390+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 324,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000466072.5:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420158.1:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 324,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000468777.5:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419129.1:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 320,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 320,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000469217.5:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419027.1:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 321,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000471595.5:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417549.1:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "endIntronDirection": "+",
          "endIntronOffset": 5418,
          "referenceAllele": "G",
          "start": 168,
          "startIntronDirection": "+",
          "startIntronOffset": 5417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000474833.5:n.168+5418G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 217,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000475214.5:n.217+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 304,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000478469.5:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420759.1:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 5508,
          "referenceAllele": "G",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000482086.5:c.93+5508G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417253.1:n.93+5508G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 324,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000483687.5:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420639.1:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 324,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000484181.5:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417937.1:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 324,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000490504.5:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418307.1:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 347,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000494742.5:c.54+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418020.1:n.54+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 354,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.4:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 354,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.1:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 354,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "XM_011512873.1:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511175.1:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 339,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 339,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "XM_011512873.2:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511175.1:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 339,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 339,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.5:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.303+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.303+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:n.303+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:n.303+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 339,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 339,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.2:c.303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:n.303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713549"
    }
  ],
  "type": "nucleotide"
}