{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9740072",
  "communityStandardTitle": [
    "NM_014948.4(UBOX5):c.-42+11897C>T",
    "NM_021826.5(FASTKD5):c.1202C>T (p.Ser401Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=443641",
        "active": true,
        "id": "COSM443641"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2208026[alleleid]",
        "alleleId": 2208026,
        "preferredName": "NM_021826.5(FASTKD5):c.1202C>T (p.Ser401Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2224606",
        "RCV": [
          "RCV004086725"
        ],
        "variationId": 2224606
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-3128515-G-A",
        "id": "20-3128515-G-A",
        "variant": "20:3128515 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.3128515G>A?assembly=hg19",
        "id": "chr20:g.3128515G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.3147869G>A?assembly=hg38",
        "id": "chr20:g.3147869G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767011584",
        "rs": 767011584
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-3128515-G-A?dataset=gnomad_r2_1",
        "id": "20-3128515-G-A",
        "variant": "20:3128515 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-3147869-G-A?dataset=gnomad_r3",
        "id": "20-3147869-G-A",
        "variant": "20:3147869 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-3147869-G-A?dataset=gnomad_r4",
        "id": "20-3147869-G-A",
        "variant": "20:3147869 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 3147869,
          "referenceAllele": "G",
          "start": 3147868
        }
      ],
      "hgvs": [
        "NC_000020.11:g.3147869G>A",
        "CM000682.2:g.3147869G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 3128515,
          "referenceAllele": "G",
          "start": 3128514
        }
      ],
      "hgvs": [
        "NC_000020.10:g.3128515G>A",
        "CM000682.1:g.3128515G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 3076515,
          "referenceAllele": "G",
          "start": 3076514
        }
      ],
      "hgvs": [
        "NC_000020.9:g.3076515G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3879,
          "referenceAllele": "C",
          "start": 3878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025790",
      "geneNCBI_id": 60493,
      "geneSymbol": "FASTKD5",
      "hgvs": [
        "ENST00000686392.1:n.3879C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830550"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1628,
          "referenceAllele": "C",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025790",
      "geneNCBI_id": 60493,
      "geneSymbol": "FASTKD5",
      "hgvs": [
        "ENST00000687419.1:c.1202C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510780.1:p.Ser401Leu",
        "hgvsWellDefined": "ENSP00000510780.1:p.Ser401Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2033,
          "referenceAllele": "C",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025790",
      "geneNCBI_id": 60493,
      "geneSymbol": "FASTKD5",
      "hgvs": [
        "ENST00000688674.1:c.1202C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510078.1:p.Ser401Leu",
        "hgvsWellDefined": "ENSP00000510078.1:p.Ser401Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "referenceAllele": "C",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025790",
      "geneNCBI_id": 60493,
      "geneSymbol": "FASTKD5",
      "hgvs": [
        "ENST00000692371.1:c.1202C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510038.1:p.Ser401Leu",
        "hgvsWellDefined": "ENSP00000510038.1:p.Ser401Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
          "endIntronDirection": "+",
          "endIntronOffset": 11897,
          "referenceAllele": "C",
          "start": 100,
          "startIntronDirection": "+",
          "startIntronOffset": 11896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017777",
      "geneNCBI_id": 22888,
      "geneSymbol": "UBOX5",
      "hgvs": [
        "ENST00000217173.7:c.-42+11897C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217173.2:n.-42+11897C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740355",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217173.7:c.-42+11897C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014948.4:c.-42+11897C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217173.2:n.-42+11897C>T"
          },
          "RefSeq": {
            "hgvs": "NP_055763.1:n.-42+11897C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025790",
      "geneNCBI_id": 60493,
      "geneSymbol": "FASTKD5",
      "hgvs": [
        "ENST00000380266.4:c.1202C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369618.3:p.Ser401Leu",
        "hgvsWellDefined": "ENSP00000369618.3:p.Ser401Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752358",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380266.4:c.1202C>T"
          },
          "RefSeq": {
            "hgvs": "NM_021826.5:c.1202C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369618.3:p.Ser401Leu"
          },
          "RefSeq": {
            "hgvs": "NP_068598.1:p.Ser401Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "endIntronDirection": "+",
          "endIntronOffset": 11897,
          "referenceAllele": "C",
          "start": 431,
          "startIntronDirection": "+",
          "startIntronOffset": 11896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017777",
      "geneNCBI_id": 22888,
      "geneSymbol": "UBOX5",
      "hgvs": [
        "ENST00000217173.6:c.-42+11897C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217173.2:n.-42+11897C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "endIntronDirection": "+",
          "endIntronOffset": 11897,
          "referenceAllele": "C",
          "start": 431,
          "startIntronDirection": "+",
          "startIntronOffset": 11896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017777",
      "geneNCBI_id": 22888,
      "geneSymbol": "UBOX5",
      "hgvs": [
        "ENST00000348031.6:c.-42+11897C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311726.3:n.-42+11897C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025790",
      "geneNCBI_id": 60493,
      "geneSymbol": "FASTKD5",
      "hgvs": [
        "ENST00000380266.3:c.1202C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369618.3:p.Ser401Leu",
        "hgvsWellDefined": "ENSP00000369618.3:p.Ser401Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 218,
          "endIntronDirection": "+",
          "endIntronOffset": 8815,
          "referenceAllele": "C",
          "start": 218,
          "startIntronDirection": "+",
          "startIntronOffset": 8814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017777",
      "geneNCBI_id": 22888,
      "geneSymbol": "UBOX5",
      "hgvs": [
        "ENST00000449731.1:c.-42+8815C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404364.1:n.-42+8815C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300359"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 145,
          "endIntronDirection": "+",
          "endIntronOffset": 11897,
          "referenceAllele": "C",
          "start": 145,
          "startIntronDirection": "+",
          "startIntronOffset": 11896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017777",
      "geneNCBI_id": 22888,
      "geneSymbol": "UBOX5",
      "hgvs": [
        "NM_001267584.1:c.-42+11897C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254513.1:n.-42+11897C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 145,
          "endIntronDirection": "+",
          "endIntronOffset": 11897,
          "referenceAllele": "C",
          "start": 145,
          "startIntronDirection": "+",
          "startIntronOffset": 11896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017777",
      "geneNCBI_id": 22888,
      "geneSymbol": "UBOX5",
      "hgvs": [
        "NM_014948.3:c.-42+11897C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055763.1:n.-42+11897C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580430345",
      "coordinates": [
        {
          "allele": "T",
          "end": 1513,
          "referenceAllele": "C",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025790",
      "geneNCBI_id": 60493,
      "geneSymbol": "FASTKD5",
      "hgvs": [
        "NM_021826.4:c.1202C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068598.1:p.Ser401Leu",
        "hgvsWellDefined": "NP_068598.1:p.Ser401Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 145,
          "endIntronDirection": "+",
          "endIntronOffset": 11897,
          "referenceAllele": "C",
          "start": 145,
          "startIntronDirection": "+",
          "startIntronOffset": 11896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017777",
      "geneNCBI_id": 22888,
      "geneSymbol": "UBOX5",
      "hgvs": [
        "NM_199415.2:c.-42+11897C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_955447.1:n.-42+11897C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1464,
          "endIntronDirection": "-",
          "endIntronOffset": 2668,
          "referenceAllele": "G",
          "start": 1464,
          "startIntronDirection": "-",
          "startIntronOffset": 2669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044111",
      "geneNCBI_id": 100134015,
      "geneSymbol": "UBOX5-AS1",
      "hgvs": [
        "NR_038395.1:n.1465-2669G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
          "endIntronDirection": "+",
          "endIntronOffset": 11897,
          "referenceAllele": "C",
          "start": 100,
          "startIntronDirection": "+",
          "startIntronOffset": 11896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017777",
      "geneNCBI_id": 22888,
      "geneSymbol": "UBOX5",
      "hgvs": [
        "NM_014948.4:c.-42+11897C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055763.1:n.-42+11897C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217173.7:c.-42+11897C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014948.4:c.-42+11897C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217173.2:n.-42+11897C>T"
          },
          "RefSeq": {
            "hgvs": "NP_055763.1:n.-42+11897C>T"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580430345",
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025790",
      "geneNCBI_id": 60493,
      "geneSymbol": "FASTKD5",
      "hgvs": [
        "NM_021826.5:c.1202C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068598.1:p.Ser401Leu",
        "hgvsWellDefined": "NP_068598.1:p.Ser401Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670307",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380266.4:c.1202C>T"
          },
          "RefSeq": {
            "hgvs": "NM_021826.5:c.1202C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369618.3:p.Ser401Leu"
          },
          "RefSeq": {
            "hgvs": "NP_068598.1:p.Ser401Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
          "endIntronDirection": "+",
          "endIntronOffset": 11897,
          "referenceAllele": "C",
          "start": 100,
          "startIntronDirection": "+",
          "startIntronOffset": 11896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017777",
      "geneNCBI_id": 22888,
      "geneSymbol": "UBOX5",
      "hgvs": [
        "NM_001267584.2:c.-42+11897C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254513.1:n.-42+11897C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
          "endIntronDirection": "+",
          "endIntronOffset": 11897,
          "referenceAllele": "C",
          "start": 100,
          "startIntronDirection": "+",
          "startIntronOffset": 11896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017777",
      "geneNCBI_id": 22888,
      "geneSymbol": "UBOX5",
      "hgvs": [
        "NM_199415.3:c.-42+11897C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_955447.1:n.-42+11897C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701503"
    }
  ],
  "type": "nucleotide"
}