{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10264586",
  "communityStandardTitle": [
    "NM_000106.6(CYP2D6):c.1203G>C (p.Ser401=)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-42522965-C-G",
        "id": "22-42522965-C-G",
        "variant": "22:42522965 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42522965C>G?assembly=hg19",
        "id": "chr22:g.42522965C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42126963C>G?assembly=hg38",
        "id": "chr22:g.42126963C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28371732",
        "rs": 28371732
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42522965-C-G?dataset=gnomad_r2_1",
        "id": "22-42522965-C-G",
        "variant": "22:42522965 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42126963-C-G?dataset=gnomad_r3",
        "id": "22-42126963-C-G",
        "variant": "22:42126963 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42126963-C-G?dataset=gnomad_r4",
        "id": "22-42126963-C-G",
        "variant": "22:42126963 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 42126963,
          "referenceAllele": "C",
          "start": 42126962
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42126963C>G",
        "CM000684.2:g.42126963C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 42522965,
          "referenceAllele": "C",
          "start": 42522964
        }
      ],
      "hgvs": [
        "NC_000022.10:g.42522965C>G",
        "CM000684.1:g.42522965C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 40852909,
          "referenceAllele": "C",
          "start": 40852908
        }
      ],
      "hgvs": [
        "NC_000022.9:g.40852909C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8029,
          "referenceAllele": "G",
          "start": 8028
        }
      ],
      "hgvs": [
        "NG_008376.3:g.8029G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8848,
          "referenceAllele": "G",
          "start": 8847
        }
      ],
      "hgvs": [
        "NG_008376.4:g.8848G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616101"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.10:c.1001G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.6:n.1001G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1222,
          "referenceAllele": "G",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000645361.2:c.1203G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496150.1:p.Ser401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.1203G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.1203G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Ser401="
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Ser401="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1124,
          "referenceAllele": "G",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000359033.4:c.1050G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351927.4:p.Ser350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 821,
          "referenceAllele": "G",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.9:c.821G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.5:n.821G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1318,
          "referenceAllele": "G",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360608.9:c.1203G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353820.5:p.Ser401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265193"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000389970.7:c.1194G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374620.4:p.Ser398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1927,
          "referenceAllele": "G",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000488442.1:n.1927G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825069659",
      "coordinates": [
        {
          "allele": "C",
          "end": 1293,
          "referenceAllele": "G",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.5:c.1203G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Ser401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825340375",
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "G",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.2:c.1050G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:p.Ser350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008848"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2360,
          "referenceAllele": "G",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529966.1:c.1203G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528268.1:p.Ser401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097025"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2552,
          "referenceAllele": "G",
          "start": 2551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529967.1:c.1203G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528269.1:p.Ser401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2360,
          "referenceAllele": "G",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529968.1:c.1203G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528270.1:p.Ser401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097027"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1674,
          "referenceAllele": "G",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529969.1:c.1059G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528271.1:p.Ser353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2207,
          "referenceAllele": "G",
          "start": 2206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529970.1:c.1050G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528272.1:p.Ser350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1674,
          "referenceAllele": "G",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529971.1:c.1059G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528273.1:p.Ser353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825069659",
      "coordinates": [
        {
          "allele": "C",
          "end": 1222,
          "referenceAllele": "G",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.6:c.1203G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Ser401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.1203G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.1203G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Ser401="
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Ser401="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825340375",
      "coordinates": [
        {
          "allele": "C",
          "end": 1069,
          "referenceAllele": "G",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.3:c.1050G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:p.Ser350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675668"
    }
  ],
  "type": "nucleotide"
}