{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1620961272",
  "communityStandardTitle": [
    "NM_004117.4(FKBP5):c.*1136G>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3800373",
        "rs": 3800373
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 35574699,
          "referenceAllele": "C",
          "start": 35574698
        }
      ],
      "hgvs": [
        "NC_000006.12:g.35574699C>G",
        "CM000668.2:g.35574699C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 35542476,
          "referenceAllele": "C",
          "start": 35542475
        }
      ],
      "hgvs": [
        "NC_000006.11:g.35542476C>G",
        "CM000668.1:g.35542476C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 35650454,
          "referenceAllele": "C",
          "start": 35650453
        }
      ],
      "hgvs": [
        "NC_000006.10:g.35650454C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158885,
          "referenceAllele": "G",
          "start": 158884
        }
      ],
      "hgvs": [
        "NG_012645.2:g.158885G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002500"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2641,
          "referenceAllele": "G",
          "start": 2640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003721",
      "geneNCBI_id": 2289,
      "geneSymbol": "FKBP5",
      "hgvs": [
        "ENST00000357266.9:c.*1136G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349811.3:n.*1136G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357266.9:c.*1136G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004117.4:c.*1136G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349811.3:n.*1136G>C"
          },
          "RefSeq": {
            "hgvs": "NP_004108.1:n.*1136G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2663,
          "referenceAllele": "G",
          "start": 2662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003721",
      "geneNCBI_id": 2289,
      "geneSymbol": "FKBP5",
      "hgvs": [
        "ENST00000357266.8:c.*1136G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349811.3:n.*1136G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264040"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2826,
          "referenceAllele": "G",
          "start": 2825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003721",
      "geneNCBI_id": 2289,
      "geneSymbol": "FKBP5",
      "hgvs": [
        "ENST00000536438.5:c.*1136G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444810.1:n.*1136G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2713,
          "referenceAllele": "G",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003721",
      "geneNCBI_id": 2289,
      "geneSymbol": "FKBP5",
      "hgvs": [
        "ENST00000539068.5:c.*1136G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441205.1:n.*1136G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361662"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2826,
          "referenceAllele": "G",
          "start": 2825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003721",
      "geneNCBI_id": 2289,
      "geneSymbol": "FKBP5",
      "hgvs": [
        "NM_001145775.2:c.*1136G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139247.1:n.*1136G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2713,
          "referenceAllele": "G",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003721",
      "geneNCBI_id": 2289,
      "geneSymbol": "FKBP5",
      "hgvs": [
        "NM_001145776.1:c.*1136G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139248.1:n.*1136G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2668,
          "referenceAllele": "G",
          "start": 2667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003721",
      "geneNCBI_id": 2289,
      "geneSymbol": "FKBP5",
      "hgvs": [
        "NM_004117.3:c.*1136G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004108.1:n.*1136G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 432,
          "endIntronDirection": "-",
          "endIntronOffset": 18330,
          "referenceAllele": "C",
          "start": 432,
          "startIntronDirection": "-",
          "startIntronOffset": 18331
        }
      ],
      "hgvs": [
        "XR_242006.2:n.433-18331C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116186"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 461,
          "endIntronDirection": "-",
          "endIntronOffset": 18330,
          "referenceAllele": "C",
          "start": 461,
          "startIntronDirection": "-",
          "startIntronOffset": 18331
        }
      ],
      "hgvs": [
        "XR_242006.3:n.462-18331C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2826,
          "referenceAllele": "G",
          "start": 2825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003721",
      "geneNCBI_id": 2289,
      "geneSymbol": "FKBP5",
      "hgvs": [
        "NM_001145775.3:c.*1136G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139247.1:n.*1136G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712848"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2713,
          "referenceAllele": "G",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003721",
      "geneNCBI_id": 2289,
      "geneSymbol": "FKBP5",
      "hgvs": [
        "NM_001145776.2:c.*1136G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139248.1:n.*1136G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712849"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2641,
          "referenceAllele": "G",
          "start": 2640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003721",
      "geneNCBI_id": 2289,
      "geneSymbol": "FKBP5",
      "hgvs": [
        "NM_004117.4:c.*1136G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004108.1:n.*1136G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727478",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357266.9:c.*1136G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004117.4:c.*1136G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349811.3:n.*1136G>C"
          },
          "RefSeq": {
            "hgvs": "NP_004108.1:n.*1136G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}