{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10264755",
  "communityStandardTitle": [
    "NM_000106.6(CYP2D6):c.975G>A (p.Pro325=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2819618[alleleid]",
        "alleleId": 2819618,
        "preferredName": "NM_000106.6(CYP2D6):c.975G>A (p.Pro325=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2653240",
        "RCV": [
          "RCV003437622"
        ],
        "variationId": 2653240
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-42523854-C-T",
        "id": "22-42523854-C-T",
        "variant": "22:42523854 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42523854C>T?assembly=hg19",
        "id": "chr22:g.42523854C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42127852C>T?assembly=hg38",
        "id": "chr22:g.42127852C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/79292917",
        "rs": 79292917
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42523854-C-T?dataset=gnomad_r2_1",
        "id": "22-42523854-C-T",
        "variant": "22:42523854 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42127852-C-T?dataset=gnomad_r3",
        "id": "22-42127852-C-T",
        "variant": "22:42127852 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42127852-C-T?dataset=gnomad_r4",
        "id": "22-42127852-C-T",
        "variant": "22:42127852 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 42127852,
          "referenceAllele": "C",
          "start": 42127851
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42127852C>T",
        "CM000684.2:g.42127852C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 42523854,
          "referenceAllele": "C",
          "start": 42523853
        }
      ],
      "hgvs": [
        "NC_000022.10:g.42523854C>T",
        "CM000684.1:g.42523854C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 40853798,
          "referenceAllele": "C",
          "start": 40853797
        }
      ],
      "hgvs": [
        "NC_000022.9:g.40853798C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7140,
          "referenceAllele": "G",
          "start": 7139
        }
      ],
      "hgvs": [
        "NG_008376.3:g.7140G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7959,
          "referenceAllele": "G",
          "start": 7958
        }
      ],
      "hgvs": [
        "NG_008376.4:g.7959G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616101"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 773,
          "referenceAllele": "G",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.10:c.773G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.6:n.773G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000645361.2:c.975G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496150.1:p.Pro325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.975G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.975G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Pro325="
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Pro325="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 896,
          "referenceAllele": "G",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000359033.4:c.822G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351927.4:p.Pro274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "referenceAllele": "G",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.9:c.593G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.5:n.593G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1090,
          "referenceAllele": "G",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360608.9:c.975G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353820.5:p.Pro325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "G",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000389970.7:c.909G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374620.4:p.Pro303="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1699,
          "referenceAllele": "G",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000488442.1:n.1699G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825069646",
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "G",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.5:c.975G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Pro325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825340362",
      "coordinates": [
        {
          "allele": "A",
          "end": 912,
          "referenceAllele": "G",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.2:c.822G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:p.Pro274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2132,
          "referenceAllele": "G",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529966.1:c.975G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528268.1:p.Pro325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2324,
          "referenceAllele": "G",
          "start": 2323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529967.1:c.975G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528269.1:p.Pro325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2132,
          "referenceAllele": "G",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529968.1:c.975G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528270.1:p.Pro325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097027"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529969.1:c.831G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528271.1:p.Pro277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1979,
          "referenceAllele": "G",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529970.1:c.822G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528272.1:p.Pro274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529971.1:c.831G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528273.1:p.Pro277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2000,
          "endIntronDirection": "-",
          "endIntronOffset": 217,
          "referenceAllele": "G",
          "start": 2000,
          "startIntronDirection": "-",
          "startIntronOffset": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529972.1:c.844-218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528274.1:n.844-218G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825069646",
      "coordinates": [
        {
          "allele": "A",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.6:c.975G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Pro325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.975G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.975G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Pro325="
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Pro325="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825340362",
      "coordinates": [
        {
          "allele": "A",
          "end": 841,
          "referenceAllele": "G",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.3:c.822G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:p.Pro274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675668"
    }
  ],
  "type": "nucleotide"
}