{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1465349681",
  "communityStandardTitle": [
    "NM_012108.4(STAP1):c.530+60A>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2242330",
        "rs": 2242330
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 67581531,
          "referenceAllele": "A",
          "start": 67581530
        }
      ],
      "hgvs": [
        "NC_000004.12:g.67581531A>C",
        "CM000666.2:g.67581531A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 68447249,
          "referenceAllele": "A",
          "start": 68447248
        }
      ],
      "hgvs": [
        "NC_000004.11:g.68447249A>C",
        "CM000666.1:g.68447249A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 68129844,
          "referenceAllele": "A",
          "start": 68129843
        }
      ],
      "hgvs": [
        "NC_000004.10:g.68129844A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 27804,
          "referenceAllele": "A",
          "start": 27803
        }
      ],
      "hgvs": [
        "NG_047142.1:g.27804A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616663"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 613,
          "endIntronDirection": "+",
          "endIntronOffset": 60,
          "referenceAllele": "A",
          "start": 613,
          "startIntronDirection": "+",
          "startIntronOffset": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024133",
      "geneNCBI_id": 26228,
      "geneSymbol": "STAP1",
      "hgvs": [
        "ENST00000265404.7:c.530+60A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265404.2:n.530+60A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742834",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265404.7:c.530+60A>C"
          },
          "RefSeq": {
            "hgvs": "NM_012108.4:c.530+60A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265404.2:n.530+60A>C"
          },
          "RefSeq": {
            "hgvs": "NP_036240.1:n.530+60A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 612,
          "endIntronDirection": "+",
          "endIntronOffset": 60,
          "referenceAllele": "A",
          "start": 612,
          "startIntronDirection": "+",
          "startIntronOffset": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024133",
      "geneNCBI_id": 26228,
      "geneSymbol": "STAP1",
      "hgvs": [
        "ENST00000265404.6:c.530+60A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265404.2:n.530+60A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 612,
          "endIntronDirection": "+",
          "endIntronOffset": 60,
          "referenceAllele": "A",
          "start": 612,
          "startIntronDirection": "+",
          "startIntronOffset": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024133",
      "geneNCBI_id": 26228,
      "geneSymbol": "STAP1",
      "hgvs": [
        "ENST00000396225.1:c.530+60A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379527.1:n.530+60A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 612,
          "endIntronDirection": "+",
          "endIntronOffset": 60,
          "referenceAllele": "A",
          "start": 612,
          "startIntronDirection": "+",
          "startIntronOffset": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024133",
      "geneNCBI_id": 26228,
      "geneSymbol": "STAP1",
      "hgvs": [
        "NM_012108.2:c.530+60A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_036240.1:n.530+60A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 588,
          "endIntronDirection": "+",
          "endIntronOffset": 60,
          "referenceAllele": "A",
          "start": 588,
          "startIntronDirection": "+",
          "startIntronOffset": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024133",
      "geneNCBI_id": 26228,
      "geneSymbol": "STAP1",
      "hgvs": [
        "XM_005265675.3:c.530+60A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265732.1:n.530+60A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 588,
          "endIntronDirection": "+",
          "endIntronOffset": 60,
          "referenceAllele": "A",
          "start": 588,
          "startIntronDirection": "+",
          "startIntronOffset": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024133",
      "geneNCBI_id": 26228,
      "geneSymbol": "STAP1",
      "hgvs": [
        "XM_006714175.2:c.530+60A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714238.1:n.530+60A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 588,
          "endIntronDirection": "+",
          "endIntronOffset": 60,
          "referenceAllele": "A",
          "start": 588,
          "startIntronDirection": "+",
          "startIntronOffset": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024133",
      "geneNCBI_id": 26228,
      "geneSymbol": "STAP1",
      "hgvs": [
        "XR_427541.2:n.588+60A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117768"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "endIntronDirection": "+",
          "endIntronOffset": 60,
          "referenceAllele": "A",
          "start": 643,
          "startIntronDirection": "+",
          "startIntronOffset": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024133",
      "geneNCBI_id": 26228,
      "geneSymbol": "STAP1",
      "hgvs": [
        "NM_001317769.1:c.530+60A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304698.1:n.530+60A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "endIntronDirection": "+",
          "endIntronOffset": 60,
          "referenceAllele": "A",
          "start": 643,
          "startIntronDirection": "+",
          "startIntronOffset": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024133",
      "geneNCBI_id": 26228,
      "geneSymbol": "STAP1",
      "hgvs": [
        "NM_012108.3:c.530+60A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_036240.1:n.530+60A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 592,
          "endIntronDirection": "+",
          "endIntronOffset": 60,
          "referenceAllele": "A",
          "start": 592,
          "startIntronDirection": "+",
          "startIntronOffset": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024133",
      "geneNCBI_id": 26228,
      "geneSymbol": "STAP1",
      "hgvs": [
        "XM_017008018.2:c.530+60A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863507.1:n.530+60A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 613,
          "endIntronDirection": "+",
          "endIntronOffset": 60,
          "referenceAllele": "A",
          "start": 613,
          "startIntronDirection": "+",
          "startIntronOffset": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024133",
      "geneNCBI_id": 26228,
      "geneSymbol": "STAP1",
      "hgvs": [
        "NM_012108.4:c.530+60A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_036240.1:n.530+60A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667895",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265404.7:c.530+60A>C"
          },
          "RefSeq": {
            "hgvs": "NM_012108.4:c.530+60A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265404.2:n.530+60A>C"
          },
          "RefSeq": {
            "hgvs": "NP_036240.1:n.530+60A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 613,
          "endIntronDirection": "+",
          "endIntronOffset": 60,
          "referenceAllele": "A",
          "start": 613,
          "startIntronDirection": "+",
          "startIntronOffset": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024133",
      "geneNCBI_id": 26228,
      "geneSymbol": "STAP1",
      "hgvs": [
        "NM_001317769.2:c.530+60A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304698.1:n.530+60A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684300"
    }
  ],
  "type": "nucleotide"
}