{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA411775123",
  "communityStandardTitle": [
    "NM_000106.6(CYP2D6):c.291C>A (p.Asp97Glu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42525801G>T?assembly=hg19",
        "id": "chr22:g.42525801G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42129799G>T?assembly=hg38",
        "id": "chr22:g.42129799G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 42129799,
          "referenceAllele": "G",
          "start": 42129798
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42129799G>T",
        "CM000684.2:g.42129799G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 42525801,
          "referenceAllele": "G",
          "start": 42525800
        }
      ],
      "hgvs": [
        "NC_000022.10:g.42525801G>T",
        "CM000684.1:g.42525801G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 40855745,
          "referenceAllele": "G",
          "start": 40855744
        }
      ],
      "hgvs": [
        "NC_000022.9:g.40855745G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5193,
          "referenceAllele": "C",
          "start": 5192
        }
      ],
      "hgvs": [
        "NG_008376.3:g.5193C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6012,
          "referenceAllele": "C",
          "start": 6011
        }
      ],
      "hgvs": [
        "NG_008376.4:g.6012C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616101"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "referenceAllele": "C",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.10:c.291C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.6:p.Asp97Glu",
        "hgvsWellDefined": "ENSP00000353241.6:p.Asp97Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "referenceAllele": "C",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000645361.2:c.291C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496150.1:p.Asp97Glu",
        "hgvsWellDefined": "ENSP00000496150.1:p.Asp97Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.291C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.291C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Asp97Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Asp97Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000359033.4:c.291C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351927.4:p.Asp97Glu",
        "hgvsWellDefined": "ENSP00000351927.4:p.Asp97Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111,
          "referenceAllele": "C",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.9:c.111C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.5:p.Asp37Glu",
        "hgvsWellDefined": "ENSP00000353241.5:p.Asp37Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 406,
          "referenceAllele": "C",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360608.9:c.291C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353820.5:p.Asp97Glu",
        "hgvsWellDefined": "ENSP00000353820.5:p.Asp97Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000389970.7:c.225C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374620.4:p.Asp75Glu",
        "hgvsWellDefined": "ENSP00000374620.4:p.Asp75Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000488442.1:n.1015C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088579302",
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.5:c.291C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Asp97Glu",
        "hgvsWellDefined": "NP_000097.3:p.Asp97Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.2:c.291C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:p.Asp97Glu",
        "hgvsWellDefined": "NP_001020332.2:p.Asp97Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529966.1:c.291C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528268.1:p.Asp97Glu",
        "hgvsWellDefined": "XP_011528268.1:p.Asp97Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1640,
          "referenceAllele": "C",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529967.1:c.291C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528269.1:p.Asp97Glu",
        "hgvsWellDefined": "XP_011528269.1:p.Asp97Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529968.1:c.291C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528270.1:p.Asp97Glu",
        "hgvsWellDefined": "XP_011528270.1:p.Asp97Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097027"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "C",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529969.1:c.148C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528271.1:p.His50Asn",
        "hgvsWellDefined": "XP_011528271.1:p.His50Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529970.1:c.291C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528272.1:p.Asp97Glu",
        "hgvsWellDefined": "XP_011528272.1:p.Asp97Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "C",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529971.1:c.148C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528273.1:p.His50Asn",
        "hgvsWellDefined": "XP_011528273.1:p.His50Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529972.1:c.291C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528274.1:p.Asp97Glu",
        "hgvsWellDefined": "XP_011528274.1:p.Asp97Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088579302",
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "referenceAllele": "C",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.6:c.291C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Asp97Glu",
        "hgvsWellDefined": "NP_000097.3:p.Asp97Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.291C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.291C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Asp97Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Asp97Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "referenceAllele": "C",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.3:c.291C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:p.Asp97Glu",
        "hgvsWellDefined": "NP_001020332.2:p.Asp97Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675668"
    }
  ],
  "type": "nucleotide"
}