{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1619240717",
  "communityStandardTitle": [
    "NM_004638.4(PRRC2A):c.5320G= (p.Val1774=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11538264",
        "rs": 11538264
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 31635412,
          "referenceAllele": "G",
          "start": 31635411
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31635412G=",
        "CM000668.2:g.31635412G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 31603189,
          "referenceAllele": "G",
          "start": 31603188
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31603189G=",
        "CM000668.1:g.31603189G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 31711168,
          "referenceAllele": "G",
          "start": 31711167
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31711168G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5564,
          "referenceAllele": "G",
          "start": 5563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "ENST00000376033.3:c.5320G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365201.2:p.Val1774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751708",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376033.3:c.5320G="
          },
          "RefSeq": {
            "hgvs": "NM_004638.4:c.5320G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365201.2:p.Val1774="
          },
          "RefSeq": {
            "hgvs": "NP_004629.3:p.Val1774="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5522,
          "referenceAllele": "G",
          "start": 5521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "ENST00000376007.8:c.5320G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365175.4:p.Val1774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270974"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5554,
          "referenceAllele": "G",
          "start": 5553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "ENST00000376033.2:c.5320G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365201.2:p.Val1774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 50,
          "referenceAllele": "G",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "ENST00000469501.1:n.50G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "referenceAllele": "G",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "ENST00000487089.1:n.53G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37,
          "referenceAllele": "G",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "ENST00000487839.1:n.37G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072131808",
      "coordinates": [
        {
          "allele": "G",
          "end": 5606,
          "referenceAllele": "G",
          "start": 5605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "NM_004638.3:c.5320G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004629.3:p.Val1774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5569,
          "referenceAllele": "G",
          "start": 5568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "NM_080686.2:c.5320G="
      ],
      "proteinEffect": {
        "hgvs": "NP_542417.2:p.Val1774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040248"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5470,
          "referenceAllele": "G",
          "start": 5469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "XM_011514890.1:c.5320G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513192.1:p.Val1774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082112"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5321,
          "referenceAllele": "G",
          "start": 5320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "XM_017011274.1:c.5320G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866763.1:p.Val1774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072131808",
      "coordinates": [
        {
          "allele": "G",
          "end": 5564,
          "referenceAllele": "G",
          "start": 5563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "NM_004638.4:c.5320G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004629.3:p.Val1774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696200",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376033.3:c.5320G="
          },
          "RefSeq": {
            "hgvs": "NM_004638.4:c.5320G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365201.2:p.Val1774="
          },
          "RefSeq": {
            "hgvs": "NP_004629.3:p.Val1774="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5527,
          "referenceAllele": "G",
          "start": 5526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "NM_080686.3:c.5320G="
      ],
      "proteinEffect": {
        "hgvs": "NP_542417.2:p.Val1774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699537"
    }
  ],
  "type": "nucleotide"
}