{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1239039679",
  "communityStandardTitle": [
    "NM_003743.5(NCOA1):c.3814C= (p.Pro1272=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1804645",
        "rs": 1804645
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 24752089,
          "referenceAllele": "C",
          "start": 24752088
        }
      ],
      "hgvs": [
        "NC_000002.12:g.24752089C=",
        "CM000664.2:g.24752089C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 24974958,
          "referenceAllele": "C",
          "start": 24974957
        }
      ],
      "hgvs": [
        "NC_000002.11:g.24974958C=",
        "CM000664.1:g.24974958C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 24828462,
          "referenceAllele": "C",
          "start": 24828461
        }
      ],
      "hgvs": [
        "NC_000002.10:g.24828462C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 172613,
          "referenceAllele": "C",
          "start": 172612
        }
      ],
      "hgvs": [
        "NG_029014.1:g.172613C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 265040,
          "referenceAllele": "C",
          "start": 265039
        }
      ],
      "hgvs": [
        "NG_029014.2:g.265040C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616293"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4558,
          "referenceAllele": "C",
          "start": 4557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "ENST00000348332.8:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320940.5:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824053",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000348332.8:c.3814C="
          },
          "RefSeq": {
            "hgvs": "NM_003743.5:c.3814C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320940.5:p.Pro1272="
          },
          "RefSeq": {
            "hgvs": "NP_003734.3:p.Pro1272="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4072,
          "referenceAllele": "C",
          "start": 4071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "ENST00000288599.9:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288599.5:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4072,
          "referenceAllele": "C",
          "start": 4071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "ENST00000348332.7:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320940.5:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4008,
          "referenceAllele": "C",
          "start": 4007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "ENST00000395856.3:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379197.3:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4525,
          "referenceAllele": "C",
          "start": 4524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "ENST00000405141.5:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385097.1:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4466,
          "referenceAllele": "C",
          "start": 4465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "ENST00000406961.5:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385216.1:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280791"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4027,
          "referenceAllele": "C",
          "start": 4026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "ENST00000407230.5:c.3361C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385195.1:p.Pro1121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066501183",
      "coordinates": [
        {
          "allele": "C",
          "end": 4072,
          "referenceAllele": "C",
          "start": 4071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "NM_003743.4:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003734.3:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4072,
          "referenceAllele": "C",
          "start": 4071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "NM_147223.2:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "NP_671756.1:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4072,
          "referenceAllele": "C",
          "start": 4071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "NM_147233.2:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "NP_671766.1:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4348,
          "referenceAllele": "C",
          "start": 4347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "XM_005264625.1:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264682.1:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4102,
          "referenceAllele": "C",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "XM_005264626.1:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264683.1:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064313"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4102,
          "referenceAllele": "C",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "XM_005264627.1:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264684.1:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4102,
          "referenceAllele": "C",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "XM_005264628.1:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264685.1:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3787,
          "referenceAllele": "C",
          "start": 3786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "XM_011533141.1:c.3499C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531443.1:p.Pro1167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4558,
          "referenceAllele": "C",
          "start": 4557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "NM_001362950.1:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349879.1:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4521,
          "referenceAllele": "C",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "NM_001362952.1:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349881.1:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4521,
          "referenceAllele": "C",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "NM_001362954.1:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349883.1:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4546,
          "referenceAllele": "C",
          "start": 4545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "NM_001362955.1:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349884.1:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066501183",
      "coordinates": [
        {
          "allele": "C",
          "end": 4558,
          "referenceAllele": "C",
          "start": 4557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "NM_003743.5:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003734.3:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525127",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000348332.8:c.3814C="
          },
          "RefSeq": {
            "hgvs": "NM_003743.5:c.3814C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320940.5:p.Pro1272="
          },
          "RefSeq": {
            "hgvs": "NP_003734.3:p.Pro1272="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4422,
          "referenceAllele": "C",
          "start": 4421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007668",
      "geneNCBI_id": 8648,
      "geneSymbol": "NCOA1",
      "hgvs": [
        "NM_147223.3:c.3814C="
      ],
      "proteinEffect": {
        "hgvs": "NP_671756.1:p.Pro1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526616"
    }
  ],
  "type": "nucleotide"
}