{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA130860",
  "communityStandardTitle": [
    "NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5496751",
        "active": true,
        "id": "COSM5496751"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49909[alleleid]",
        "alleleId": 49909,
        "preferredName": "NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41473",
        "RCV": [
          "RCV000034360",
          "RCV003137556",
          "RCV003556108",
          "RCV004525862",
          "RCV004541065"
        ],
        "variationId": 41473
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-39973401-G-A",
        "id": "17-39973401-G-A",
        "variant": "17:39973401 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39973401G>A?assembly=hg19",
        "id": "chr17:g.39973401G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41817149G>A?assembly=hg38",
        "id": "chr17:g.41817149G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514674",
        "rs": 397514674
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39973401-G-A?dataset=gnomad_r2_1",
        "id": "17-39973401-G-A",
        "variant": "17:39973401 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41817149-G-A?dataset=gnomad_r3",
        "id": "17-41817149-G-A",
        "variant": "17:41817149 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41817149-G-A?dataset=gnomad_r4",
        "id": "17-41817149-G-A",
        "variant": "17:41817149 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41817149,
          "referenceAllele": "G",
          "start": 41817148
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41817149G>A",
        "CM000679.2:g.41817149G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 39973401,
          "referenceAllele": "G",
          "start": 39973400
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39973401G>A",
        "CM000679.1:g.39973401G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 37226927,
          "referenceAllele": "G",
          "start": 37226926
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37226927G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9440,
          "referenceAllele": "G",
          "start": 9439
        }
      ],
      "hgvs": [
        "NG_015860.1:g.9440G>A",
        "LRG_12:g.9440G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002885"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "ENST00000706683.1:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516497.1:p.Glu113Lys",
        "hgvsWellDefined": "ENSP00000516497.1:p.Glu113Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "ENST00000321562.9:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317232.4:p.Glu113Lys",
        "hgvsWellDefined": "ENSP00000317232.4:p.Glu113Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746428",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321562.9:c.337G>A"
          },
          "RefSeq": {
            "hgvs": "NM_021939.4:c.337G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317232.4:p.Glu113Lys"
          },
          "RefSeq": {
            "hgvs": "NP_068758.3:p.Glu113Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "ENST00000321562.8:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317232.4:p.Glu113Lys",
        "hgvsWellDefined": "ENSP00000317232.4:p.Glu113Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 312,
          "referenceAllele": "G",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "ENST00000429461.5:c.157G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408232.1:p.Glu53Lys",
        "hgvsWellDefined": "ENSP00000408232.1:p.Glu53Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "endIntronDirection": "-",
          "endIntronOffset": 939,
          "referenceAllele": "G",
          "start": 291,
          "startIntronDirection": "-",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "ENST00000489591.5:c.246-940G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466352.1:n.246-940G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "ENST00000585664.5:c.157G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468703.1:p.Glu53Lys",
        "hgvsWellDefined": "ENSP00000468703.1:p.Glu53Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 387,
          "referenceAllele": "G",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "ENST00000585922.5:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466097.1:p.Glu113Lys",
        "hgvsWellDefined": "ENSP00000466097.1:p.Glu113Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389037"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109308",
      "coordinates": [
        {
          "allele": "A",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "NM_021939.3:c.337G>A",
        "LRG_12t1:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068758.3:p.Glu113Lys",
        "hgvsWellDefined": "NP_068758.3:p.Glu113Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1110,
          "referenceAllele": "G",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "XM_011525099.1:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523401.1:p.Glu113Lys",
        "hgvsWellDefined": "XP_011523401.1:p.Glu113Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "endIntronDirection": "-",
          "endIntronOffset": 939,
          "referenceAllele": "G",
          "start": 291,
          "startIntronDirection": "-",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "XM_011525100.1:c.119-940G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523402.1:n.119-940G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "referenceAllele": "G",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "XM_011525099.3:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523401.1:p.Glu113Lys",
        "hgvsWellDefined": "XP_011523401.1:p.Glu113Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "endIntronDirection": "-",
          "endIntronOffset": 939,
          "referenceAllele": "G",
          "start": 291,
          "startIntronDirection": "-",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "XM_011525100.2:c.119-940G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523402.1:n.119-940G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109308",
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018169",
      "geneNCBI_id": 60681,
      "geneSymbol": "FKBP10",
      "hgvs": [
        "NM_021939.4:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068758.3:p.Glu113Lys",
        "hgvsWellDefined": "NP_068758.3:p.Glu113Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698467",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321562.9:c.337G>A"
          },
          "RefSeq": {
            "hgvs": "NM_021939.4:c.337G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317232.4:p.Glu113Lys"
          },
          "RefSeq": {
            "hgvs": "NP_068758.3:p.Glu113Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}