{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1855163605",
  "communityStandardTitle": [
    "NM_000689.5(ALDH1A1):c.1201-109C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63319",
        "rs": 63319
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 72909868,
          "referenceAllele": "G",
          "start": 72909867
        }
      ],
      "hgvs": [
        "NC_000009.12:g.72909868G=",
        "CM000671.2:g.72909868G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 75524784,
          "referenceAllele": "G",
          "start": 75524783
        }
      ],
      "hgvs": [
        "NC_000009.11:g.75524784G=",
        "CM000671.1:g.75524784G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 74714604,
          "referenceAllele": "G",
          "start": 74714603
        }
      ],
      "hgvs": [
        "NC_000009.10:g.74714604G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48186,
          "referenceAllele": "C",
          "start": 48185
        }
      ],
      "hgvs": [
        "NG_012249.1:g.48186C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002317"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "C",
          "start": 1253,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000402",
      "geneNCBI_id": 216,
      "geneSymbol": "ALDH1A1",
      "hgvs": [
        "ENST00000297785.8:c.1201-109C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297785.3:n.1201-109C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744553",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297785.8:c.1201-109C="
          },
          "RefSeq": {
            "hgvs": "NM_000689.5:c.1201-109C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297785.3:n.1201-109C="
          },
          "RefSeq": {
            "hgvs": "NP_000680.2:n.1201-109C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1255,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "C",
          "start": 1255,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000402",
      "geneNCBI_id": 216,
      "geneSymbol": "ALDH1A1",
      "hgvs": [
        "ENST00000297785.7:c.1201-109C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297785.3:n.1201-109C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254517"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1517,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "C",
          "start": 1517,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000402",
      "geneNCBI_id": 216,
      "geneSymbol": "ALDH1A1",
      "hgvs": [
        "NM_000689.4:c.1201-109C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000680.2:n.1201-109C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "C",
          "start": 1253,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000402",
      "geneNCBI_id": 216,
      "geneSymbol": "ALDH1A1",
      "hgvs": [
        "NM_000689.5:c.1201-109C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000680.2:n.1201-109C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662534",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297785.8:c.1201-109C="
          },
          "RefSeq": {
            "hgvs": "NM_000689.5:c.1201-109C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297785.3:n.1201-109C="
          },
          "RefSeq": {
            "hgvs": "NP_000680.2:n.1201-109C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}