{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1873367660",
  "communityStandardTitle": [
    "NM_000031.6(ALAD):c.36C= (p.Phe12=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912984",
        "rs": 121912984
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 113393524,
          "referenceAllele": "G",
          "start": 113393523
        }
      ],
      "hgvs": [
        "NC_000009.12:g.113393524G=",
        "CM000671.2:g.113393524G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 116155804,
          "referenceAllele": "G",
          "start": 116155803
        }
      ],
      "hgvs": [
        "NC_000009.11:g.116155804G=",
        "CM000671.1:g.116155804G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 115195625,
          "referenceAllele": "G",
          "start": 115195624
        }
      ],
      "hgvs": [
        "NC_000009.10:g.115195625G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12815,
          "referenceAllele": "C",
          "start": 12814
        }
      ],
      "hgvs": [
        "NG_008716.1:g.12815C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001175"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "ENST00000409155.8:c.36C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386284.3:p.Phe12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409155.8:c.36C="
          },
          "RefSeq": {
            "hgvs": "NM_000031.6:c.36C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386284.3:p.Phe12="
          },
          "RefSeq": {
            "hgvs": "NP_000022.3:p.Phe12="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 233,
          "referenceAllele": "C",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "ENST00000409155.7:c.36C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386284.3:p.Phe12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 237,
          "referenceAllele": "C",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "ENST00000448137.5:c.63C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392748.1:p.Phe21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299590"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "ENST00000452726.1:c.63C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415737.1:p.Phe21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 180,
          "referenceAllele": "C",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "ENST00000464749.5:n.180C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "referenceAllele": "C",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "ENST00000468504.5:n.158C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "referenceAllele": "C",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "ENST00000482847.5:n.143C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "ENST00000494848.1:n.184C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825007758",
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "C",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "NM_000031.5:c.36C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000022.3:p.Phe12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 211,
          "referenceAllele": "C",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "XM_005251799.1:c.-44C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251856.1:n.-44C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "XM_011518363.1:c.162C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516665.1:p.Phe54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "referenceAllele": "C",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "XM_011518364.1:c.63C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516666.1:p.Phe21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "C",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "NM_001003945.2:c.-44C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001003945.1:n.-44C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826970042",
      "coordinates": [
        {
          "allele": "C",
          "end": 298,
          "referenceAllele": "C",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "NM_001317745.1:c.63C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304674.1:p.Phe21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 430,
          "referenceAllele": "C",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "XM_011518364.2:c.63C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516666.1:p.Phe21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "referenceAllele": "C",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "XM_024447449.1:c.-44C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303217.1:n.-44C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "XR_002956764.1:n.536C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825007758",
      "coordinates": [
        {
          "allele": "C",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "NM_000031.6:c.36C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000022.3:p.Phe12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662293",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409155.8:c.36C="
          },
          "RefSeq": {
            "hgvs": "NM_000031.6:c.36C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386284.3:p.Phe12="
          },
          "RefSeq": {
            "hgvs": "NP_000022.3:p.Phe12="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "NM_001003945.3:c.-44C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001003945.1:n.-44C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826970042",
      "coordinates": [
        {
          "allele": "C",
          "end": 298,
          "referenceAllele": "C",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000395",
      "geneNCBI_id": 210,
      "geneSymbol": "ALAD",
      "hgvs": [
        "NM_001317745.2:c.63C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304674.1:p.Phe21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717441"
    }
  ],
  "type": "nucleotide"
}