{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14476802",
  "communityStandardTitle": [
    "NM_001395966.1(IGBP1C):c.-231+1197A>C",
    "NM_031272.5(TEX14):c.-2+1197A>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.56768103T>G?assembly=hg19",
        "id": "chr17:g.56768103T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.58690742T>G?assembly=hg38",
        "id": "chr17:g.58690742T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12946522",
        "rs": 12946522
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-56768103-T-G?dataset=gnomad_r2_1",
        "id": "17-56768103-T-G",
        "variant": "17:56768103 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-58690742-T-G?dataset=gnomad_r3",
        "id": "17-58690742-T-G",
        "variant": "17:58690742 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-58690742-T-G?dataset=gnomad_r4",
        "id": "17-58690742-T-G",
        "variant": "17:58690742 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 58690742,
          "referenceAllele": "T",
          "start": 58690741
        }
      ],
      "hgvs": [
        "NC_000017.11:g.58690742T>G",
        "CM000679.2:g.58690742T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 56768103,
          "referenceAllele": "T",
          "start": 56768102
        }
      ],
      "hgvs": [
        "NC_000017.10:g.56768103T>G",
        "CM000679.1:g.56768103T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 54123102,
          "referenceAllele": "T",
          "start": 54123101
        }
      ],
      "hgvs": [
        "NC_000017.9:g.54123102T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3141,
          "referenceAllele": "T",
          "start": 3140
        }
      ],
      "hgvs": [
        "NG_023199.1:g.3141T>G",
        "LRG_314:g.3141T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6338,
          "referenceAllele": "A",
          "start": 6337
        }
      ],
      "hgvs": [
        "NG_047169.1:g.6338A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616688"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043611",
      "geneNCBI_id": 645545,
      "geneSymbol": "IGBP1C",
      "hgvs": [
        "ENST00000583666.3:c.-231+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492384.1:n.-231+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906043",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000583666.3:c.-231+1197A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001395966.1:c.-231+1197A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492384.1:n.-231+1197A>C"
          },
          "RefSeq": {
            "hgvs": "NP_001382895.1:n.-231+1197A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011737",
      "geneNCBI_id": 56155,
      "geneSymbol": "TEX14",
      "hgvs": [
        "ENST00000349033.10:c.-2+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268910.8:n.-2+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748389",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000349033.10:c.-2+1197A>C"
          },
          "RefSeq": {
            "hgvs": "NM_031272.5:c.-2+1197A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268910.8:n.-2+1197A>C"
          },
          "RefSeq": {
            "hgvs": "NP_112562.3:n.-2+1197A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 80,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 80,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043611",
      "geneNCBI_id": 645545,
      "geneSymbol": "IGBP1C",
      "hgvs": [
        "ENST00000583666.2:c.-231+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492384.1:n.-231+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 85,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 85,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011737",
      "geneNCBI_id": 56155,
      "geneSymbol": "TEX14",
      "hgvs": [
        "ENST00000240361.12:c.-2+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000240361.8:n.-2+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249134"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 85,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 85,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011737",
      "geneNCBI_id": 56155,
      "geneSymbol": "TEX14",
      "hgvs": [
        "ENST00000349033.9:c.-2+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268910.8:n.-2+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 117,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 117,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011737",
      "geneNCBI_id": 56155,
      "geneSymbol": "TEX14",
      "hgvs": [
        "ENST00000389934.7:c.-2+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374584.3:n.-2+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011737",
      "geneNCBI_id": 56155,
      "geneSymbol": "TEX14",
      "hgvs": [
        "ENST00000582740.1:c.-2+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463593.1:n.-2+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 117,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 117,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011737",
      "geneNCBI_id": 56155,
      "geneSymbol": "TEX14",
      "hgvs": [
        "NM_001201457.1:c.-2+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188386.1:n.-2+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 117,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 117,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011737",
      "geneNCBI_id": 56155,
      "geneSymbol": "TEX14",
      "hgvs": [
        "NM_031272.4:c.-2+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_112562.3:n.-2+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 117,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 117,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011737",
      "geneNCBI_id": 56155,
      "geneSymbol": "TEX14",
      "hgvs": [
        "NM_198393.3:c.-2+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_938207.2:n.-2+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044547"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 141,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 141,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011737",
      "geneNCBI_id": 56155,
      "geneSymbol": "TEX14",
      "hgvs": [
        "XM_011525028.1:c.-2+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523330.1:n.-2+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 141,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 141,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011737",
      "geneNCBI_id": 56155,
      "geneSymbol": "TEX14",
      "hgvs": [
        "XM_011525030.1:c.-2+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523332.1:n.-2+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 141,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 141,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011737",
      "geneNCBI_id": 56155,
      "geneSymbol": "TEX14",
      "hgvs": [
        "XM_011525031.1:c.-2+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523333.1:n.-2+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 141,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 141,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011737",
      "geneNCBI_id": 56155,
      "geneSymbol": "TEX14",
      "hgvs": [
        "XM_011525032.1:c.-2+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523334.1:n.-2+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011737",
      "geneNCBI_id": 56155,
      "geneSymbol": "TEX14",
      "hgvs": [
        "NM_001201457.2:c.-2+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188386.1:n.-2+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011737",
      "geneNCBI_id": 56155,
      "geneSymbol": "TEX14",
      "hgvs": [
        "NM_031272.5:c.-2+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_112562.3:n.-2+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728759",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000349033.10:c.-2+1197A>C"
          },
          "RefSeq": {
            "hgvs": "NM_031272.5:c.-2+1197A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268910.8:n.-2+1197A>C"
          },
          "RefSeq": {
            "hgvs": "NP_112562.3:n.-2+1197A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011737",
      "geneNCBI_id": 56155,
      "geneSymbol": "TEX14",
      "hgvs": [
        "NM_198393.4:c.-2+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_938207.2:n.-2+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 1197,
          "referenceAllele": "A",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043611",
      "geneNCBI_id": 645545,
      "geneSymbol": "IGBP1C",
      "hgvs": [
        "NM_001395966.1:c.-231+1197A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382895.1:n.-231+1197A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783064",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000583666.3:c.-231+1197A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001395966.1:c.-231+1197A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492384.1:n.-231+1197A>C"
          },
          "RefSeq": {
            "hgvs": "NP_001382895.1:n.-231+1197A>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}