{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA18242987",
  "communityStandardTitle": [
    "NM_001229.5(CASP9):c.630+194G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.15833200C>T?assembly=hg19",
        "id": "chr1:g.15833200C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.15506705C>T?assembly=hg38",
        "id": "chr1:g.15506705C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4646038",
        "rs": 4646038
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-15506705-C-T?dataset=gnomad_r3",
        "id": "1-15506705-C-T",
        "variant": "1:15506705 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-15506705-C-T?dataset=gnomad_r4",
        "id": "1-15506705-C-T",
        "variant": "1:15506705 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 15506705,
          "referenceAllele": "C",
          "start": 15506704
        }
      ],
      "hgvs": [
        "NC_000001.11:g.15506705C>T",
        "CM000663.2:g.15506705C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 15833200,
          "referenceAllele": "C",
          "start": 15833199
        }
      ],
      "hgvs": [
        "NC_000001.10:g.15833200C>T",
        "CM000663.1:g.15833200C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 15705787,
          "referenceAllele": "C",
          "start": 15705786
        }
      ],
      "hgvs": [
        "NC_000001.9:g.15705787C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23086,
          "referenceAllele": "G",
          "start": 23085
        }
      ],
      "hgvs": [
        "NG_029188.1:g.23086G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004308"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 645,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 645,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "ENST00000333868.10:c.630+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330237.5:n.630+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747342",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333868.10:c.630+194G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001229.5:c.630+194G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000330237.5:n.630+194G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001220.2:n.630+194G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 725,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 725,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "ENST00000333868.9:c.630+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330237.5:n.630+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "endIntronDirection": "-",
          "endIntronOffset": 11252,
          "referenceAllele": "G",
          "start": 565,
          "startIntronDirection": "-",
          "startIntronOffset": 11253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "ENST00000348549.9:c.419-11253G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255256.7:n.419-11253G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 642,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 642,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "ENST00000375890.8:c.381+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365051.4:n.381+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 680,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "ENST00000400777.7:c.680+194G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS279111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 154,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 154,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "ENST00000424908.5:c.154+194G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS288502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 647,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 647,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "ENST00000440484.1:c.630+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411304.1:n.630+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 536,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 536,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "ENST00000447522.5:c.381+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396540.1:n.381+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 490,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 490,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "ENST00000474305.2:c.490+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449216.1:n.490+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 875,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "ENST00000546424.5:c.630+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449584.1:n.630+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 875,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "NM_001229.4:c.630+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001220.2:n.630+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 663,
          "endIntronDirection": "-",
          "endIntronOffset": 11252,
          "referenceAllele": "G",
          "start": 663,
          "startIntronDirection": "-",
          "startIntronOffset": 11253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "NM_001278054.1:c.419-11253G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264983.1:n.419-11253G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 706,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "NM_032996.3:c.381+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_127463.2:n.381+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 933,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 933,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "NR_102732.1:n.933+194G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 735,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "NR_102733.1:n.735+194G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 559,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 559,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "XM_005246014.2:c.381+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246071.1:n.381+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 795,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 795,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "XM_011542270.1:c.630+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540572.1:n.630+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 747,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 747,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "XM_011542271.1:c.381+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540573.1:n.381+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "XM_011542272.1:c.381+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540574.1:n.381+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 669,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 669,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "XM_011542273.1:c.630+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540575.1:n.630+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 795,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 795,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "XR_946778.1:n.795+194G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 671,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "XM_011542273.3:c.630+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540575.1:n.630+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 645,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 645,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "NM_001229.5:c.630+194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001220.2:n.630+194G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664040",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333868.10:c.630+194G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001229.5:c.630+194G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000330237.5:n.630+194G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001220.2:n.630+194G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 11252,
          "referenceAllele": "G",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 11253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "NM_001278054.2:c.419-11253G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264983.1:n.419-11253G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 703,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 703,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "NR_102732.2:n.703+194G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 505,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "G",
          "start": 505,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "NR_102733.2:n.505+194G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730574"
    }
  ],
  "type": "nucleotide"
}