{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6770925",
  "communityStandardTitle": [
    "NM_001917.5(DAO):c.-9-27T>G"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN164366"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1232122[alleleid]",
        "alleleId": 1232122,
        "preferredName": "NM_001917.5(DAO):c.-9-27T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1243869",
        "RCV": [
          "RCV001646030"
        ],
        "variationId": 1243869
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-109278747-T-G",
        "id": "12-109278747-T-G",
        "variant": "12:109278747 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.109278747T>G?assembly=hg19",
        "id": "chr12:g.109278747T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.108884971T>G?assembly=hg38",
        "id": "chr12:g.108884971T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2111902",
        "rs": 2111902
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109278747-T-G?dataset=gnomad_r2_1",
        "id": "12-109278747-T-G",
        "variant": "12:109278747 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-108884971-T-G?dataset=gnomad_r3",
        "id": "12-108884971-T-G",
        "variant": "12:108884971 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-108884971-T-G?dataset=gnomad_r4",
        "id": "12-108884971-T-G",
        "variant": "12:108884971 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 108884971,
          "referenceAllele": "T",
          "start": 108884970
        }
      ],
      "hgvs": [
        "NC_000012.12:g.108884971T>G",
        "CM000674.2:g.108884971T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 109278747,
          "referenceAllele": "T",
          "start": 109278746
        }
      ],
      "hgvs": [
        "NC_000012.11:g.109278747T>G",
        "CM000674.1:g.109278747T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 107802876,
          "referenceAllele": "T",
          "start": 107802875
        }
      ],
      "hgvs": [
        "NC_000012.10:g.107802876T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9891,
          "referenceAllele": "T",
          "start": 9890
        }
      ],
      "hgvs": [
        "NG_023236.1:g.9891T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003728"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 133,
          "endIntronDirection": "-",
          "endIntronOffset": 26,
          "referenceAllele": "T",
          "start": 133,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "ENST00000228476.8:c.-9-27T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228476.3:n.-9-27T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740747",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228476.8:c.-9-27T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001917.5:c.-9-27T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228476.3:n.-9-27T>G"
          },
          "RefSeq": {
            "hgvs": "NP_001908.3:n.-9-27T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 195,
          "endIntronDirection": "-",
          "endIntronOffset": 26,
          "referenceAllele": "T",
          "start": 195,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "ENST00000228476.7:c.-9-27T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228476.3:n.-9-27T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 134,
          "endIntronDirection": "-",
          "endIntronOffset": 26,
          "referenceAllele": "T",
          "start": 134,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "ENST00000547122.5:c.-9-27T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448095.1:n.-9-27T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41,
          "endIntronDirection": "-",
          "endIntronOffset": 26,
          "referenceAllele": "T",
          "start": 41,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "ENST00000547166.1:c.-9-27T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447104.1:n.-9-27T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 116,
          "endIntronDirection": "-",
          "endIntronOffset": 4497,
          "referenceAllele": "T",
          "start": 116,
          "startIntronDirection": "-",
          "startIntronOffset": 4498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "ENST00000547768.5:c.-60-4498T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449967.1:n.-60-4498T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85,
          "endIntronDirection": "-",
          "endIntronOffset": 26,
          "referenceAllele": "T",
          "start": 85,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "ENST00000549215.5:c.-9-27T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449248.1:n.-9-27T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 26,
          "referenceAllele": "T",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "ENST00000551281.5:c.-9-27T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446853.1:n.-9-27T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 144,
          "endIntronDirection": "-",
          "endIntronOffset": 26,
          "referenceAllele": "T",
          "start": 144,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "NM_001917.4:c.-9-27T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001908.3:n.-9-27T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 195,
          "endIntronDirection": "-",
          "endIntronOffset": 26,
          "referenceAllele": "T",
          "start": 195,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "XM_005268692.2:c.-9-27T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268749.1:n.-9-27T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065853"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 212,
          "endIntronDirection": "-",
          "endIntronOffset": 26,
          "referenceAllele": "T",
          "start": 212,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "XM_011538004.1:c.-9-27T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536306.1:n.-9-27T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "endIntronDirection": "-",
          "endIntronOffset": 26,
          "referenceAllele": "T",
          "start": 216,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "XM_011538005.1:c.-9-27T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536307.1:n.-9-27T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 195,
          "endIntronDirection": "-",
          "endIntronOffset": 26,
          "referenceAllele": "T",
          "start": 195,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "XM_005268692.4:c.-9-27T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268749.1:n.-9-27T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "endIntronDirection": "-",
          "endIntronOffset": 26,
          "referenceAllele": "T",
          "start": 230,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "XM_011538004.2:c.-9-27T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536306.1:n.-9-27T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "endIntronDirection": "-",
          "endIntronOffset": 26,
          "referenceAllele": "T",
          "start": 234,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "XM_011538005.2:c.-9-27T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536307.1:n.-9-27T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 133,
          "endIntronDirection": "-",
          "endIntronOffset": 26,
          "referenceAllele": "T",
          "start": 133,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "NM_001917.5:c.-9-27T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001908.3:n.-9-27T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665246",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228476.8:c.-9-27T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001917.5:c.-9-27T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228476.3:n.-9-27T>G"
          },
          "RefSeq": {
            "hgvs": "NP_001908.3:n.-9-27T>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}