{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354737809",
  "communityStandardTitle": [
    "NM_000532.5(PCCB):c.2T>G (p.Met1Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2907380[alleleid]",
        "alleleId": 2907380,
        "preferredName": "NM_000532.5(PCCB):c.2T>G (p.Met1Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2745320",
        "RCV": [
          "RCV003511578"
        ],
        "variationId": 2745320
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.135969219T>G?assembly=hg19",
        "id": "chr3:g.135969219T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136250377T>G?assembly=hg38",
        "id": "chr3:g.136250377T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398123462",
        "rs": 398123462
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-136250377-T-G?dataset=gnomad_r4",
        "id": "3-136250377-T-G",
        "variant": "3:136250377 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 136250377,
          "referenceAllele": "T",
          "start": 136250376
        }
      ],
      "hgvs": [
        "NC_000003.12:g.136250377T>G",
        "CM000665.2:g.136250377T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 135969219,
          "referenceAllele": "T",
          "start": 135969218
        }
      ],
      "hgvs": [
        "NC_000003.11:g.135969219T>G",
        "CM000665.1:g.135969219T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 137451909,
          "referenceAllele": "T",
          "start": 137451908
        }
      ],
      "hgvs": [
        "NC_000003.10:g.137451909T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5053,
          "referenceAllele": "T",
          "start": 5052
        }
      ],
      "hgvs": [
        "NG_008939.1:g.5053T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001317"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 38,
          "referenceAllele": "T",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.9:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Met1Arg",
        "hgvsWellDefined": "ENSP00000251654.4:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741494",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Met1Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Met1Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 72,
          "referenceAllele": "T",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.8:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Met1Arg",
        "hgvsWellDefined": "ENSP00000251654.4:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249758"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23,
          "referenceAllele": "T",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000462637.5:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420391.1:p.Met1Arg",
        "hgvsWellDefined": "ENSP00000420391.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9,
          "referenceAllele": "T",
          "start": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000465423.5:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419263.1:p.Met1Arg",
        "hgvsWellDefined": "ENSP00000419263.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23,
          "referenceAllele": "T",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000466072.5:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420158.1:p.Met1Arg",
        "hgvsWellDefined": "ENSP00000420158.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23,
          "referenceAllele": "T",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000468777.5:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419129.1:p.Met1Arg",
        "hgvsWellDefined": "ENSP00000419129.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19,
          "referenceAllele": "T",
          "start": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000469217.5:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419027.1:p.Met1Arg",
        "hgvsWellDefined": "ENSP00000419027.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20,
          "referenceAllele": "T",
          "start": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000471595.5:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417549.1:p.Met1Arg",
        "hgvsWellDefined": "ENSP00000417549.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3,
          "referenceAllele": "T",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000478469.5:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420759.1:p.Met1Arg",
        "hgvsWellDefined": "ENSP00000420759.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23,
          "referenceAllele": "T",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000482086.5:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417253.1:p.Met1Arg",
        "hgvsWellDefined": "ENSP00000417253.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23,
          "referenceAllele": "T",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000483687.5:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420639.1:p.Met1Arg",
        "hgvsWellDefined": "ENSP00000420639.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23,
          "referenceAllele": "T",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000484181.5:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417937.1:p.Met1Arg",
        "hgvsWellDefined": "ENSP00000417937.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23,
          "referenceAllele": "T",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000490504.5:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418307.1:p.Met1Arg",
        "hgvsWellDefined": "ENSP00000418307.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825186759",
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "referenceAllele": "T",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.4:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Met1Arg",
        "hgvsWellDefined": "NP_000523.2:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741844320",
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "referenceAllele": "T",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.1:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Met1Arg",
        "hgvsWellDefined": "NP_001171485.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "referenceAllele": "T",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "XM_011512873.1:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511175.1:p.Met1Arg",
        "hgvsWellDefined": "XP_011511175.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 38,
          "referenceAllele": "T",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "XM_011512873.2:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511175.1:p.Met1Arg",
        "hgvsWellDefined": "XP_011511175.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825186759",
      "coordinates": [
        {
          "allele": "G",
          "end": 38,
          "referenceAllele": "T",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.5:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Met1Arg",
        "hgvsWellDefined": "NP_000523.2:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Met1Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Met1Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741844320",
      "coordinates": [
        {
          "allele": "G",
          "end": 38,
          "referenceAllele": "T",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.2:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Met1Arg",
        "hgvsWellDefined": "NP_001171485.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713549"
    }
  ],
  "type": "nucleotide"
}