{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10645647",
  "communityStandardTitle": [
    "NM_021939.4(FKBP10):c.1098C>T (p.Phe366=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=338381[alleleid]",
        "alleleId": 338381,
        "preferredName": "NM_021939.4(FKBP10):c.1098C>T (p.Phe366=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/323190",
        "RCV": [
          "RCV000297418",
          "RCV003765878"
        ],
        "variationId": 323190
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39976555C>T?assembly=hg19",
        "id": "chr17:g.39976555C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41820303C>T?assembly=hg38",
        "id": "chr17:g.41820303C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886052923",
        "rs": 886052923
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41820303-C-T?dataset=gnomad_r3",
        "id": "17-41820303-C-T",
        "variant": "17:41820303 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41820303-C-T?dataset=gnomad_r4",
        "id": "17-41820303-C-T",
        "variant": "17:41820303 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 41820303,
          "referenceAllele": "C",
          "start": 41820302
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41820303C>T",
        "CM000679.2:g.41820303C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39976555,
          "referenceAllele": "C",
          "start": 39976554
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39976555C>T",
        "CM000679.1:g.39976555C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 37230081,
          "referenceAllele": "C",
          "start": 37230080
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37230081C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12594,
          "referenceAllele": "C",
          "start": 12593
        }
      ],
      "hgvs": [
        "NG_015860.1:g.12594C>T",
        "LRG_12:g.12594C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002885"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "ENST00000706683.1:c.762C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516497.1:p.Phe254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "ENST00000321562.9:c.1098C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317232.4:p.Phe366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746428",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321562.9:c.1098C>T"
          },
          "RefSeq": {
            "hgvs": "NM_021939.4:c.1098C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317232.4:p.Phe366="
          },
          "RefSeq": {
            "hgvs": "NP_068758.3:p.Phe366="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1202,
          "referenceAllele": "C",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "ENST00000321562.8:c.1098C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317232.4:p.Phe366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 509,
          "referenceAllele": "C",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "ENST00000455106.1:c.509C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS302881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1372,
          "referenceAllele": "C",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "ENST00000489591.5:c.*882C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466352.1:n.*882C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "ENST00000490938.5:n.301C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829989543",
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "NM_021939.3:c.1098C>T",
        "LRG_12t1:c.1098C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068758.3:p.Phe366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1871,
          "referenceAllele": "C",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "XM_011525099.1:c.1098C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523401.1:p.Phe366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "XM_011525100.1:c.825C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523402.1:p.Phe275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "XM_011525099.3:c.1098C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523401.1:p.Phe366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "XM_011525100.2:c.825C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523402.1:p.Phe275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829989543",
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "NM_021939.4:c.1098C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068758.3:p.Phe366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698467",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321562.9:c.1098C>T"
          },
          "RefSeq": {
            "hgvs": "NM_021939.4:c.1098C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317232.4:p.Phe366="
          },
          "RefSeq": {
            "hgvs": "NP_068758.3:p.Phe366="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}