{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2631872",
  "communityStandardTitle": [
    "NM_000532.5(PCCB):c.787A>G (p.Asn263Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1654482[alleleid]",
        "alleleId": 1654482,
        "preferredName": "NM_000532.5(PCCB):c.787A>G (p.Asn263Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1664313",
        "RCV": [
          "RCV002191067"
        ],
        "variationId": 1664313
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-136016817-A-G",
        "id": "3-136016817-A-G",
        "variant": "3:136016817 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136016817A>G?assembly=hg19",
        "id": "chr3:g.136016817A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136297975A>G?assembly=hg38",
        "id": "chr3:g.136297975A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/529945350",
        "rs": 529945350
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-136016817-A-G?dataset=gnomad_r2_1",
        "id": "3-136016817-A-G",
        "variant": "3:136016817 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-136297975-A-G?dataset=gnomad_r3",
        "id": "3-136297975-A-G",
        "variant": "3:136297975 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-136297975-A-G?dataset=gnomad_r4",
        "id": "3-136297975-A-G",
        "variant": "3:136297975 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 136297975,
          "referenceAllele": "A",
          "start": 136297974
        }
      ],
      "hgvs": [
        "NC_000003.12:g.136297975A>G",
        "CM000665.2:g.136297975A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 136016817,
          "referenceAllele": "A",
          "start": 136016816
        }
      ],
      "hgvs": [
        "NC_000003.11:g.136016817A>G",
        "CM000665.1:g.136016817A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 137499507,
          "referenceAllele": "A",
          "start": 137499506
        }
      ],
      "hgvs": [
        "NC_000003.10:g.137499507A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 52651,
          "referenceAllele": "A",
          "start": 52650
        }
      ],
      "hgvs": [
        "NG_008939.1:g.52651A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001317"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.9:c.787A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Asn263Asp",
        "hgvsWellDefined": "ENSP00000251654.4:p.Asn263Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741494",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.787A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.787A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Asn263Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Asn263Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 857,
          "referenceAllele": "A",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.8:c.787A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Asn263Asp",
        "hgvsWellDefined": "ENSP00000251654.4:p.Asn263Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249758"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "referenceAllele": "A",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000462637.5:c.718A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420391.1:p.Asn240Asp",
        "hgvsWellDefined": "ENSP00000420391.1:p.Asn240Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 808,
          "referenceAllele": "A",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000466072.5:c.787A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420158.1:p.Asn263Asp",
        "hgvsWellDefined": "ENSP00000420158.1:p.Asn263Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 901,
          "referenceAllele": "A",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000468777.5:c.880A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419129.1:p.Asn294Asp",
        "hgvsWellDefined": "ENSP00000419129.1:p.Asn294Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 864,
          "referenceAllele": "A",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000469217.5:c.847A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419027.1:p.Asn283Asp",
        "hgvsWellDefined": "ENSP00000419027.1:p.Asn283Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 805,
          "referenceAllele": "A",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000471595.5:c.787A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417549.1:p.Asn263Asp",
        "hgvsWellDefined": "ENSP00000417549.1:p.Asn263Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "referenceAllele": "A",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000473073.1:n.744A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "A",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000474833.5:n.412A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316247"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 701,
          "referenceAllele": "A",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000475214.5:n.701A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 788,
          "referenceAllele": "A",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000478469.5:c.787A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420759.1:p.Asn263Asp",
        "hgvsWellDefined": "ENSP00000420759.1:p.Asn263Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "referenceAllele": "A",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000482086.5:c.439A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417253.1:p.Asn147Asp",
        "hgvsWellDefined": "ENSP00000417253.1:p.Asn147Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 751,
          "referenceAllele": "A",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000483687.5:c.730A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420639.1:p.Asn244Asp",
        "hgvsWellDefined": "ENSP00000420639.1:p.Asn244Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 808,
          "referenceAllele": "A",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000484181.5:c.787A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417937.1:p.Asn263Asp",
        "hgvsWellDefined": "ENSP00000417937.1:p.Asn263Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 637,
          "referenceAllele": "A",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000490504.5:c.616A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418307.1:p.Asn206Asp",
        "hgvsWellDefined": "ENSP00000418307.1:p.Asn206Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825187647",
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "referenceAllele": "A",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.4:c.787A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Asn263Asp",
        "hgvsWellDefined": "NP_000523.2:p.Asn263Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573185140",
      "coordinates": [
        {
          "allele": "G",
          "end": 898,
          "referenceAllele": "A",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.1:c.847A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Asn283Asp",
        "hgvsWellDefined": "NP_001171485.1:p.Asn283Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "referenceAllele": "A",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "XM_011512873.1:c.787A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511175.1:p.Asn263Asp",
        "hgvsWellDefined": "XP_011511175.1:p.Asn263Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "XM_011512873.2:c.787A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511175.1:p.Asn263Asp",
        "hgvsWellDefined": "XP_011511175.1:p.Asn263Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825187647",
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.5:c.787A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Asn263Asp",
        "hgvsWellDefined": "NP_000523.2:p.Asn263Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.787A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.787A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Asn263Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Asn263Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573185140",
      "coordinates": [
        {
          "allele": "G",
          "end": 883,
          "referenceAllele": "A",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.2:c.847A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Asn283Asp",
        "hgvsWellDefined": "NP_001171485.1:p.Asn283Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713549"
    }
  ],
  "type": "nucleotide"
}