{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413428089",
  "communityStandardTitle": [
    "NM_000044.6(AR):c.2591T>C (p.Leu864Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=976504[alleleid]",
        "alleleId": 976504,
        "preferredName": "NM_000044.6(AR):c.2591T>C (p.Leu864Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/988401",
        "RCV": [
          "RCV001269737",
          "RCV003770409"
        ],
        "variationId": 988401
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.66942810T>C?assembly=hg19",
        "id": "chrX:g.66942810T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.67722968T>C?assembly=hg38",
        "id": "chrX:g.67722968T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2076142560",
        "rs": 2076142560
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 67722968,
          "referenceAllele": "T",
          "start": 67722967
        }
      ],
      "hgvs": [
        "NC_000023.11:g.67722968T>C",
        "CM000685.2:g.67722968T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 66942810,
          "referenceAllele": "T",
          "start": 66942809
        }
      ],
      "hgvs": [
        "NC_000023.10:g.66942810T>C",
        "CM000685.1:g.66942810T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 66859535,
          "referenceAllele": "T",
          "start": 66859534
        }
      ],
      "hgvs": [
        "NC_000023.9:g.66859535T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 183937,
          "referenceAllele": "T",
          "start": 183936
        }
      ],
      "hgvs": [
        "NG_009014.2:g.183937T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3904,
          "referenceAllele": "T",
          "start": 3903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000396043.4:c.*939T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379358.4:n.*939T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3717,
          "referenceAllele": "T",
          "start": 3716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000374690.9:c.2591T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363822.3:p.Leu864Pro",
        "hgvsWellDefined": "ENSP00000363822.3:p.Leu864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751477",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374690.9:c.2591T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000044.6:c.2591T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363822.3:p.Leu864Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000035.2:p.Leu864Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1218,
          "referenceAllele": "T",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000396043.3:c.1218T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379358.3:n.1218T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753474"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2176,
          "endIntronDirection": "-",
          "endIntronOffset": 717,
          "referenceAllele": "T",
          "start": 2176,
          "startIntronDirection": "-",
          "startIntronOffset": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000396044.8:c.2174-718T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379359.3:n.2174-718T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3717,
          "referenceAllele": "T",
          "start": 3716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000612452.5:c.2591T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484033.2:p.Leu864Pro",
        "hgvsWellDefined": "ENSP00000484033.2:p.Leu864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3115,
          "referenceAllele": "T",
          "start": 3114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000374690.7:c.2591T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363822.3:p.Leu864Pro",
        "hgvsWellDefined": "ENSP00000363822.3:p.Leu864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270362"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1109,
          "referenceAllele": "T",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000396043.2:c.995T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379358.2:p.Leu332Pro",
        "hgvsWellDefined": "ENSP00000379358.2:p.Leu332Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3288,
          "endIntronDirection": "-",
          "endIntronOffset": 717,
          "referenceAllele": "T",
          "start": 3288,
          "startIntronDirection": "-",
          "startIntronOffset": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000396044.7:c.2174-718T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379359.3:n.2174-718T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277058"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3727,
          "referenceAllele": "T",
          "start": 3726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "ENST00000612452.4:c.2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484033.1:p.Leu681Pro",
        "hgvsWellDefined": "ENSP00000484033.1:p.Leu681Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139670108",
      "coordinates": [
        {
          "allele": "C",
          "end": 3706,
          "referenceAllele": "T",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "NM_000044.3:c.2591T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000035.2:p.Leu864Pro",
        "hgvsWellDefined": "NP_000035.2:p.Leu864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825305684",
      "coordinates": [
        {
          "allele": "C",
          "end": 1157,
          "referenceAllele": "T",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "NM_001011645.2:c.995T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001011645.1:p.Leu332Pro",
        "hgvsWellDefined": "NP_001011645.1:p.Leu332Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139670108",
      "coordinates": [
        {
          "allele": "C",
          "end": 3115,
          "referenceAllele": "T",
          "start": 3114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "NM_000044.4:c.2591T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000035.2:p.Leu864Pro",
        "hgvsWellDefined": "NP_000035.2:p.Leu864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825305684",
      "coordinates": [
        {
          "allele": "C",
          "end": 3302,
          "referenceAllele": "T",
          "start": 3301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "NM_001011645.3:c.995T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001011645.1:p.Leu332Pro",
        "hgvsWellDefined": "NP_001011645.1:p.Leu332Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139670108",
      "coordinates": [
        {
          "allele": "C",
          "end": 3717,
          "referenceAllele": "T",
          "start": 3716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000644",
      "geneNCBI_id": 367,
      "geneSymbol": "AR",
      "hgvs": [
        "NM_000044.6:c.2591T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000035.2:p.Leu864Pro",
        "hgvsWellDefined": "NP_000035.2:p.Leu864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374690.9:c.2591T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000044.6:c.2591T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363822.3:p.Leu864Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000035.2:p.Leu864Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}