{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354738674",
  "communityStandardTitle": [
    "NM_000532.5(PCCB):c.319G>A (p.Val107Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=542955[alleleid]",
        "alleleId": 542955,
        "preferredName": "NM_000532.5(PCCB):c.319G>A (p.Val107Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/555567",
        "RCV": [
          "RCV000671409"
        ],
        "variationId": 555567
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.135975412G>A?assembly=hg19",
        "id": "chr3:g.135975412G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136256570G>A?assembly=hg38",
        "id": "chr3:g.136256570G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553774114",
        "rs": 1553774114
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-136256570-G-A?dataset=gnomad_r4",
        "id": "3-136256570-G-A",
        "variant": "3:136256570 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 136256570,
          "referenceAllele": "G",
          "start": 136256569
        }
      ],
      "hgvs": [
        "NC_000003.12:g.136256570G>A",
        "CM000665.2:g.136256570G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 135975412,
          "referenceAllele": "G",
          "start": 135975411
        }
      ],
      "hgvs": [
        "NC_000003.11:g.135975412G>A",
        "CM000665.1:g.135975412G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 137458102,
          "referenceAllele": "G",
          "start": 137458101
        }
      ],
      "hgvs": [
        "NC_000003.10:g.137458102G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11246,
          "referenceAllele": "G",
          "start": 11245
        }
      ],
      "hgvs": [
        "NG_008939.1:g.11246G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001317"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 355,
          "referenceAllele": "G",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.9:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Val107Met",
        "hgvsWellDefined": "ENSP00000251654.4:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741494",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.319G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.319G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Val107Met"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Val107Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.8:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Val107Met",
        "hgvsWellDefined": "ENSP00000251654.4:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 203,
          "referenceAllele": "G",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000459873.1:c.70G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419293.1:p.Val24Met",
        "hgvsWellDefined": "ENSP00000419293.1:p.Val24Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 186,
          "referenceAllele": "G",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000462542.5:c.186G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 324,
          "endIntronDirection": "+",
          "endIntronOffset": 595,
          "referenceAllele": "G",
          "start": 324,
          "startIntronDirection": "+",
          "startIntronOffset": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000462637.5:c.303+595G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420391.1:n.303+595G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 281,
          "referenceAllele": "G",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000465176.5:n.281G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 413,
          "referenceAllele": "G",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000465423.5:c.406G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419263.1:p.Val136Met",
        "hgvsWellDefined": "ENSP00000419263.1:p.Val136Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000466072.5:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420158.1:p.Val107Met",
        "hgvsWellDefined": "ENSP00000420158.1:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000468777.5:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419129.1:p.Val107Met",
        "hgvsWellDefined": "ENSP00000419129.1:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 336,
          "referenceAllele": "G",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000469217.5:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419027.1:p.Val107Met",
        "hgvsWellDefined": "ENSP00000419027.1:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 337,
          "referenceAllele": "G",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000471595.5:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417549.1:p.Val107Met",
        "hgvsWellDefined": "ENSP00000417549.1:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 168,
          "endIntronDirection": "+",
          "endIntronOffset": 6012,
          "referenceAllele": "G",
          "start": 168,
          "startIntronDirection": "+",
          "startIntronOffset": 6011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000474833.5:n.168+6012G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 233,
          "referenceAllele": "G",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000475214.5:n.233G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 320,
          "referenceAllele": "G",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000478469.5:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420759.1:p.Val107Met",
        "hgvsWellDefined": "ENSP00000420759.1:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 114,
          "endIntronDirection": "-",
          "endIntronOffset": 5393,
          "referenceAllele": "G",
          "start": 114,
          "startIntronDirection": "-",
          "startIntronOffset": 5394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000482086.5:c.94-5394G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417253.1:n.94-5394G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000483687.5:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420639.1:p.Val107Met",
        "hgvsWellDefined": "ENSP00000420639.1:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000484181.5:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417937.1:p.Val107Met",
        "hgvsWellDefined": "ENSP00000417937.1:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000490504.5:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418307.1:p.Val107Met",
        "hgvsWellDefined": "ENSP00000418307.1:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000494742.5:c.70G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418020.1:p.Val24Met",
        "hgvsWellDefined": "ENSP00000418020.1:p.Val24Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331597"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103592",
      "coordinates": [
        {
          "allele": "A",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.4:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Val107Met",
        "hgvsWellDefined": "NP_000523.2:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915994168",
      "coordinates": [
        {
          "allele": "A",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.1:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Val107Met",
        "hgvsWellDefined": "NP_001171485.1:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "XM_011512873.1:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511175.1:p.Val107Met",
        "hgvsWellDefined": "XP_011511175.1:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 355,
          "referenceAllele": "G",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "XM_011512873.2:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511175.1:p.Val107Met",
        "hgvsWellDefined": "XP_011511175.1:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103592",
      "coordinates": [
        {
          "allele": "A",
          "end": 355,
          "referenceAllele": "G",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.5:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Val107Met",
        "hgvsWellDefined": "NP_000523.2:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.319G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.319G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Val107Met"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Val107Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915994168",
      "coordinates": [
        {
          "allele": "A",
          "end": 355,
          "referenceAllele": "G",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.2:c.319G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Val107Met",
        "hgvsWellDefined": "NP_001171485.1:p.Val107Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713549"
    }
  ],
  "type": "nucleotide"
}