{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354649293",
  "communityStandardTitle": [
    "NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2405907[alleleid]",
        "alleleId": 2405907,
        "preferredName": "NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2434595",
        "RCV": [
          "RCV003131883"
        ],
        "variationId": 2434595
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136046489C>A?assembly=hg19",
        "id": "chr3:g.136046489C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136327647C>A?assembly=hg38",
        "id": "chr3:g.136327647C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2529974111",
        "rs": 2529974111
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 136327647,
          "referenceAllele": "C",
          "start": 136327646
        }
      ],
      "hgvs": [
        "NC_000003.12:g.136327647C>A",
        "CM000665.2:g.136327647C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 136046489,
          "referenceAllele": "C",
          "start": 136046488
        }
      ],
      "hgvs": [
        "NC_000003.11:g.136046489C>A",
        "CM000665.1:g.136046489C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 137529179,
          "referenceAllele": "C",
          "start": 137529178
        }
      ],
      "hgvs": [
        "NC_000003.10:g.137529179C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82323,
          "referenceAllele": "C",
          "start": 82322
        }
      ],
      "hgvs": [
        "NG_008939.1:g.82323C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001317"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.9:c.1313C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Ala438Asp",
        "hgvsWellDefined": "ENSP00000251654.4:p.Ala438Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741494",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.1313C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.1313C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Ala438Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Ala438Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.8:c.1313C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Ala438Asp",
        "hgvsWellDefined": "ENSP00000251654.4:p.Ala438Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000462637.5:c.1244C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420391.1:p.Ala415Asp",
        "hgvsWellDefined": "ENSP00000420391.1:p.Ala415Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1394,
          "referenceAllele": "C",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000466072.5:c.1373C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420158.1:p.Ala458Asp",
        "hgvsWellDefined": "ENSP00000420158.1:p.Ala458Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1427,
          "referenceAllele": "C",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000468777.5:c.1406C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419129.1:p.Ala469Asp",
        "hgvsWellDefined": "ENSP00000419129.1:p.Ala469Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1390,
          "referenceAllele": "C",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000469217.5:c.1373C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419027.1:p.Ala458Asp",
        "hgvsWellDefined": "ENSP00000419027.1:p.Ala458Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000471595.5:c.1313C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417549.1:p.Ala438Asp",
        "hgvsWellDefined": "ENSP00000417549.1:p.Ala438Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1514,
          "referenceAllele": "C",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000473073.1:n.1514C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 837,
          "referenceAllele": "C",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000474833.5:n.837C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 885,
          "endIntronDirection": "-",
          "endIntronOffset": 6632,
          "referenceAllele": "C",
          "start": 885,
          "startIntronDirection": "-",
          "startIntronOffset": 6633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000478469.5:c.885-6633C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420759.1:n.885-6633C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000482086.5:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417253.1:p.Ala322Asp",
        "hgvsWellDefined": "ENSP00000417253.1:p.Ala322Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1277,
          "referenceAllele": "C",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000483687.5:c.1256C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420639.1:p.Ala419Asp",
        "hgvsWellDefined": "ENSP00000420639.1:p.Ala419Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000484181.5:c.1212C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417937.1:p.Cys404Ter",
        "hgvsWellDefined": "ENSP00000417937.1:p.Cys404_Leu405delinsLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1163,
          "referenceAllele": "C",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000490504.5:c.1142C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418307.1:p.Ala381Asp",
        "hgvsWellDefined": "ENSP00000418307.1:p.Ala381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188070",
      "coordinates": [
        {
          "allele": "A",
          "end": 1364,
          "referenceAllele": "C",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.4:c.1313C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Ala438Asp",
        "hgvsWellDefined": "NP_000523.2:p.Ala438Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580159007",
      "coordinates": [
        {
          "allele": "A",
          "end": 1424,
          "referenceAllele": "C",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.1:c.1373C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Ala458Asp",
        "hgvsWellDefined": "NP_001171485.1:p.Ala458Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015808"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188070",
      "coordinates": [
        {
          "allele": "A",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.5:c.1313C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Ala438Asp",
        "hgvsWellDefined": "NP_000523.2:p.Ala438Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.1313C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.1313C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Ala438Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Ala438Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580159007",
      "coordinates": [
        {
          "allele": "A",
          "end": 1409,
          "referenceAllele": "C",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.2:c.1373C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Ala458Asp",
        "hgvsWellDefined": "NP_001171485.1:p.Ala458Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713549"
    }
  ],
  "type": "nucleotide"
}