{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2406579782",
  "communityStandardTitle": [
    "NM_000106.6(CYP2D6):c.360C= (p.Phe120=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61736507",
        "rs": 61736507
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 42129178,
          "referenceAllele": "G",
          "start": 42129177
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42129178G=",
        "CM000684.2:g.42129178G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 42525180,
          "referenceAllele": "G",
          "start": 42525179
        }
      ],
      "hgvs": [
        "NC_000022.10:g.42525180G=",
        "CM000684.1:g.42525180G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 40855124,
          "referenceAllele": "G",
          "start": 40855123
        }
      ],
      "hgvs": [
        "NC_000022.9:g.40855124G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5814,
          "referenceAllele": "C",
          "start": 5813
        }
      ],
      "hgvs": [
        "NG_008376.3:g.5814C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6633,
          "referenceAllele": "C",
          "start": 6632
        }
      ],
      "hgvs": [
        "NG_008376.4:g.6633C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616101"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "endIntronDirection": "-",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 352,
          "startIntronDirection": "-",
          "startIntronOffset": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.10:c.353-234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.6:n.353-234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000645361.2:c.360C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496150.1:p.Phe120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.360C="
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.360C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Phe120="
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Phe120="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 426,
          "endIntronDirection": "-",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 426,
          "startIntronDirection": "-",
          "startIntronOffset": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000359033.4:c.353-234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351927.4:n.353-234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.9:c.173-234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.5:n.173-234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 475,
          "referenceAllele": "C",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360608.9:c.360C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353820.5:p.Phe120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265193"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000389970.7:c.294C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374620.4:p.Phe98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000488442.1:n.1084C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088573058",
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.5:c.360C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Phe120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 442,
          "endIntronDirection": "-",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 442,
          "startIntronDirection": "-",
          "startIntronOffset": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.2:c.353-234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:n.353-234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008848"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529966.1:c.360C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528268.1:p.Phe120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097025"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1709,
          "referenceAllele": "C",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529967.1:c.360C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528269.1:p.Phe120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529968.1:c.360C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528270.1:p.Phe120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097027"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 832,
          "referenceAllele": "C",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529969.1:c.217C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528271.1:p.Pro73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1509,
          "endIntronDirection": "-",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 1509,
          "startIntronDirection": "-",
          "startIntronOffset": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529970.1:c.353-234C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528272.1:n.353-234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 832,
          "referenceAllele": "C",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529971.1:c.217C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528273.1:p.Pro73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097030"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529972.1:c.360C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528274.1:p.Phe120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088573058",
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.6:c.360C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Phe120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.360C="
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.360C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Phe120="
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Phe120="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 371,
          "endIntronDirection": "-",
          "endIntronOffset": 233,
          "referenceAllele": "C",
          "start": 371,
          "startIntronDirection": "-",
          "startIntronOffset": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.3:c.353-234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:n.353-234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675668"
    }
  ],
  "type": "nucleotide"
}