{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10692458",
  "communityStandardTitle": [
    "NM_014656.3(KIAA0040):c.-383-4363A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.175151183T>C?assembly=hg19",
        "id": "chr1:g.175151183T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.175182047T>C?assembly=hg38",
        "id": "chr1:g.175182047T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1008459",
        "rs": 1008459
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-175151183-T-C?dataset=gnomad_r2_1",
        "id": "1-175151183-T-C",
        "variant": "1:175151183 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-175182047-T-C?dataset=gnomad_r3",
        "id": "1-175182047-T-C",
        "variant": "1:175182047 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-175182047-T-C?dataset=gnomad_r4",
        "id": "1-175182047-T-C",
        "variant": "1:175182047 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 175182047,
          "referenceAllele": "T",
          "start": 175182046
        }
      ],
      "hgvs": [
        "NC_000001.11:g.175182047T>C",
        "CM000663.2:g.175182047T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 175151183,
          "referenceAllele": "T",
          "start": 175151182
        }
      ],
      "hgvs": [
        "NC_000001.10:g.175151183T>C",
        "CM000663.1:g.175151183T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 173417806,
          "referenceAllele": "T",
          "start": 173417805
        }
      ],
      "hgvs": [
        "NC_000001.9:g.173417806T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 137,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 137,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "ENST00000423313.6:c.-383-4363A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462172.1:n.-383-4363A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423313.6:c.-383-4363A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014656.3:c.-383-4363A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000462172.1:n.-383-4363A>G"
          },
          "RefSeq": {
            "hgvs": "NP_055471.2:n.-383-4363A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 154,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "ENST00000423313.5:c.-383-4363A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462172.1:n.-383-4363A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 84,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "ENST00000444639.5:c.-383-4363A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463734.1:n.-383-4363A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 115,
          "endIntronDirection": "+",
          "endIntronOffset": 10593,
          "referenceAllele": "A",
          "start": 115,
          "startIntronDirection": "+",
          "startIntronOffset": 10592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "ENST00000545251.6:c.-310+10593A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464040.1:n.-310+10593A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "ENST00000563563.2:n.218-4363A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377506"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 136,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 136,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "ENST00000567124.5:n.137-4363A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 311,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 311,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "NM_001162893.1:c.-383-4363A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156365.1:n.-383-4363A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014334"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 234,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "NM_001162894.1:c.-383-4363A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156366.1:n.-383-4363A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 174,
          "endIntronDirection": "+",
          "endIntronOffset": 10593,
          "referenceAllele": "A",
          "start": 174,
          "startIntronDirection": "+",
          "startIntronOffset": 10592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "NM_001162895.1:c.-310+10593A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156367.1:n.-310+10593A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 174,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 174,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "NM_014656.2:c.-383-4363A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055471.2:n.-383-4363A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 227,
          "endIntronDirection": "+",
          "endIntronOffset": 10813,
          "referenceAllele": "A",
          "start": 227,
          "startIntronDirection": "+",
          "startIntronOffset": 10812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "XM_005245628.3:c.-310+10813A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245685.1:n.-310+10813A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057309"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 290,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 290,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "XM_011510182.1:c.-766-4363A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508484.1:n.-766-4363A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077447"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 137,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 137,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "XM_011510183.1:c.-841-4363A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508485.1:n.-841-4363A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 229,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 229,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "XM_011510184.1:c.-458-4363A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508486.1:n.-458-4363A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "endIntronDirection": "+",
          "endIntronOffset": 10813,
          "referenceAllele": "A",
          "start": 234,
          "startIntronDirection": "+",
          "startIntronOffset": 10812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "NM_001319230.1:c.-310+10813A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306159.1:n.-310+10813A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513323"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 174,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 174,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "NM_001319231.1:c.-458-4363A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306160.1:n.-458-4363A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513324"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "endIntronDirection": "+",
          "endIntronOffset": 10593,
          "referenceAllele": "A",
          "start": 513,
          "startIntronDirection": "+",
          "startIntronOffset": 10592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "XM_017002911.2:c.-310+10593A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858400.1:n.-310+10593A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 137,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 137,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "NM_014656.3:c.-383-4363A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055471.2:n.-383-4363A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668439",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423313.6:c.-383-4363A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014656.3:c.-383-4363A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000462172.1:n.-383-4363A>G"
          },
          "RefSeq": {
            "hgvs": "NP_055471.2:n.-383-4363A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 205,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 205,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "NM_001162893.2:c.-383-4363A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156365.1:n.-383-4363A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 128,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 128,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "NM_001162894.2:c.-383-4363A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156366.1:n.-383-4363A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 137,
          "endIntronDirection": "+",
          "endIntronOffset": 10593,
          "referenceAllele": "A",
          "start": 137,
          "startIntronDirection": "+",
          "startIntronOffset": 10592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "NM_001162895.2:c.-310+10593A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156367.1:n.-310+10593A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 10813,
          "referenceAllele": "A",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 10812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "NM_001319230.2:c.-310+10813A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306159.1:n.-310+10813A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 137,
          "endIntronDirection": "-",
          "endIntronOffset": 4362,
          "referenceAllele": "A",
          "start": 137,
          "startIntronDirection": "-",
          "startIntronOffset": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028950",
      "geneNCBI_id": 9674,
      "geneSymbol": "KIAA0040",
      "hgvs": [
        "NM_001319231.2:c.-458-4363A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306160.1:n.-458-4363A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684770"
    }
  ],
  "type": "nucleotide"
}