{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10436663",
  "communityStandardTitle": [
    "NM_000044.6(AR):c.2481C>A (p.Phe827Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3094437",
        "active": true,
        "id": "COSM3094437"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3094438",
        "active": true,
        "id": "COSM3094438"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5826566",
        "active": true,
        "id": "COSM5826566"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3088001[alleleid]",
        "alleleId": 3088001,
        "preferredName": "NM_000044.6(AR):c.2481C>A (p.Phe827Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2932347",
        "RCV": [
          "RCV003795561",
          "RCV003984425",
          "RCV003966674"
        ],
        "variationId": 2932347
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-66942700-C-A",
        "id": "X-66942700-C-A",
        "variant": "X:66942700 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.66942700C>A?assembly=hg19",
        "id": "chrX:g.66942700C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.67722858C>A?assembly=hg38",
        "id": "chrX:g.67722858C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200801099",
        "rs": 200801099
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-66942700-C-A?dataset=gnomad_r2_1",
        "id": "X-66942700-C-A",
        "variant": "X:66942700 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-67722858-C-A?dataset=gnomad_r3",
        "id": "X-67722858-C-A",
        "variant": "X:67722858 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-67722858-C-A?dataset=gnomad_r4",
        "id": "X-67722858-C-A",
        "variant": "X:67722858 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 67722858,
          "referenceAllele": "C",
          "start": 67722857
        }
      ],
      "hgvs": [
        "NC_000023.11:g.67722858C>A",
        "CM000685.2:g.67722858C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 66942700,
          "referenceAllele": "C",
          "start": 66942699
        }
      ],
      "hgvs": [
        "NC_000023.10:g.66942700C>A",
        "CM000685.1:g.66942700C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 66859425,
          "referenceAllele": "C",
          "start": 66859424
        }
      ],
      "hgvs": [
        "NC_000023.9:g.66859425C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 183827,
          "referenceAllele": "C",
          "start": 183826
        }
      ],
      "hgvs": [
        "NG_009014.2:g.183827C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3794,
          "referenceAllele": "C",
          "start": 3793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000396043.4:c.*829C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379358.4:n.*829C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3607,
          "referenceAllele": "C",
          "start": 3606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000374690.9:c.2481C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363822.3:p.Phe827Leu",
        "hgvsWellDefined": "ENSP00000363822.3:p.Phe827Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751477",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374690.9:c.2481C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000044.6:c.2481C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363822.3:p.Phe827Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000035.2:p.Phe827Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000396043.3:c.1108C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379358.3:n.1108C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2176,
          "endIntronDirection": "-",
          "endIntronOffset": 827,
          "referenceAllele": "C",
          "start": 2176,
          "startIntronDirection": "-",
          "startIntronOffset": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000396044.8:c.2174-828C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379359.3:n.2174-828C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3607,
          "referenceAllele": "C",
          "start": 3606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000612452.5:c.2481C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484033.2:p.Phe827Leu",
        "hgvsWellDefined": "ENSP00000484033.2:p.Phe827Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3005,
          "referenceAllele": "C",
          "start": 3004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000374690.7:c.2481C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363822.3:p.Phe827Leu",
        "hgvsWellDefined": "ENSP00000363822.3:p.Phe827Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 999,
          "referenceAllele": "C",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000396043.2:c.885C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379358.2:p.Phe295Leu",
        "hgvsWellDefined": "ENSP00000379358.2:p.Phe295Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3288,
          "endIntronDirection": "-",
          "endIntronOffset": 827,
          "referenceAllele": "C",
          "start": 3288,
          "startIntronDirection": "-",
          "startIntronOffset": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000396044.7:c.2174-828C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379359.3:n.2174-828C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3617,
          "referenceAllele": "C",
          "start": 3616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000612452.4:c.1932C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484033.1:p.Phe644Leu",
        "hgvsWellDefined": "ENSP00000484033.1:p.Phe644Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825027050",
      "coordinates": [
        {
          "allele": "A",
          "end": 3596,
          "referenceAllele": "C",
          "start": 3595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "NM_000044.3:c.2481C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000035.2:p.Phe827Leu",
        "hgvsWellDefined": "NP_000035.2:p.Phe827Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825305621",
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "NM_001011645.2:c.885C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001011645.1:p.Phe295Leu",
        "hgvsWellDefined": "NP_001011645.1:p.Phe295Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825027050",
      "coordinates": [
        {
          "allele": "A",
          "end": 3005,
          "referenceAllele": "C",
          "start": 3004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "NM_000044.4:c.2481C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000035.2:p.Phe827Leu",
        "hgvsWellDefined": "NP_000035.2:p.Phe827Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825305621",
      "coordinates": [
        {
          "allele": "A",
          "end": 3192,
          "referenceAllele": "C",
          "start": 3191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "NM_001011645.3:c.885C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001011645.1:p.Phe295Leu",
        "hgvsWellDefined": "NP_001011645.1:p.Phe295Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825027050",
      "coordinates": [
        {
          "allele": "A",
          "end": 3607,
          "referenceAllele": "C",
          "start": 3606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "NM_000044.6:c.2481C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000035.2:p.Phe827Leu",
        "hgvsWellDefined": "NP_000035.2:p.Phe827Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374690.9:c.2481C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000044.6:c.2481C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363822.3:p.Phe827Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000035.2:p.Phe827Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}