{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA324665402",
  "communityStandardTitle": [
    "NM_000106.6(CYP2D6):c.1143C>T (p.Asp381=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42523479G>A?assembly=hg19",
        "id": "chr22:g.42523479G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42127477G>A?assembly=hg38",
        "id": "chr22:g.42127477G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61736515",
        "rs": 61736515
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42127477-G-A?dataset=gnomad_r3",
        "id": "22-42127477-G-A",
        "variant": "22:42127477 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42127477-G-A?dataset=gnomad_r4",
        "id": "22-42127477-G-A",
        "variant": "22:42127477 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 42127477,
          "referenceAllele": "G",
          "start": 42127476
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42127477G>A",
        "CM000684.2:g.42127477G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 42523479,
          "referenceAllele": "G",
          "start": 42523478
        }
      ],
      "hgvs": [
        "NC_000022.10:g.42523479G>A",
        "CM000684.1:g.42523479G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 40853423,
          "referenceAllele": "G",
          "start": 40853422
        }
      ],
      "hgvs": [
        "NC_000022.9:g.40853423G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7515,
          "referenceAllele": "C",
          "start": 7514
        }
      ],
      "hgvs": [
        "NG_008376.3:g.7515C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8334,
          "referenceAllele": "C",
          "start": 8333
        }
      ],
      "hgvs": [
        "NG_008376.4:g.8334C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616101"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.10:c.941C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.6:n.941C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1162,
          "referenceAllele": "C",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000645361.2:c.1143C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496150.1:p.Asp381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.1143C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.1143C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Asp381="
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Asp381="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000359033.4:c.990C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351927.4:p.Asp330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.9:c.761C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.5:n.761C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1258,
          "referenceAllele": "C",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360608.9:c.1143C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353820.5:p.Asp381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1290,
          "referenceAllele": "C",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000389970.7:c.1134C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374620.4:p.Asp378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1867,
          "referenceAllele": "C",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000488442.1:n.1867C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088577896",
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.5:c.1143C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Asp381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.2:c.990C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:p.Asp330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2300,
          "referenceAllele": "C",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529966.1:c.1143C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528268.1:p.Asp381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2492,
          "referenceAllele": "C",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529967.1:c.1143C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528269.1:p.Asp381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2300,
          "referenceAllele": "C",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529968.1:c.1143C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528270.1:p.Asp381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1614,
          "referenceAllele": "C",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529969.1:c.999C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528271.1:p.Asp333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2147,
          "referenceAllele": "C",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529970.1:c.990C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528272.1:p.Asp330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1614,
          "referenceAllele": "C",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529971.1:c.999C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528273.1:p.Asp333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088577896",
      "coordinates": [
        {
          "allele": "T",
          "end": 1162,
          "referenceAllele": "C",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.6:c.1143C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Asp381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.1143C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.1143C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Asp381="
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Asp381="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1009,
          "referenceAllele": "C",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.3:c.990C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:p.Asp330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675668"
    }
  ],
  "type": "nucleotide"
}