{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115193",
  "communityStandardTitle": [
    "NM_000102.4(CYP17A1):c.1216T>C (p.Trp406Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16836[alleleid]",
        "alleleId": 16836,
        "preferredName": "NM_000102.4(CYP17A1):c.1216T>C (p.Trp406Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1797",
        "RCV": [
          "RCV000001870",
          "RCV001851567",
          "RCV003466781"
        ],
        "variationId": 1797
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.104591292A>G?assembly=hg19",
        "id": "chr10:g.104591292A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.102831535A>G?assembly=hg38",
        "id": "chr10:g.102831535A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894143",
        "rs": 104894143
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102831535-A-G?dataset=gnomad_r3",
        "id": "10-102831535-A-G",
        "variant": "10:102831535 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102831535-A-G?dataset=gnomad_r4",
        "id": "10-102831535-A-G",
        "variant": "10:102831535 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 102831535,
          "referenceAllele": "A",
          "start": 102831534
        }
      ],
      "hgvs": [
        "NC_000010.11:g.102831535A>G",
        "CM000672.2:g.102831535A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 104591292,
          "referenceAllele": "A",
          "start": 104591291
        }
      ],
      "hgvs": [
        "NC_000010.10:g.104591292A>G",
        "CM000672.1:g.104591292A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 104581282,
          "referenceAllele": "A",
          "start": 104581281
        }
      ],
      "hgvs": [
        "NC_000010.9:g.104581282A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10999,
          "referenceAllele": "T",
          "start": 10998
        }
      ],
      "hgvs": [
        "NG_007955.1:g.10999T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000723"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "referenceAllele": "T",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000369887.4:c.1216T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358903.3:p.Trp406Arg",
        "hgvsWellDefined": "ENSP00000358903.3:p.Trp406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750499",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369887.4:c.1216T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000102.4:c.1216T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358903.3:p.Trp406Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000093.1:p.Trp406Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "T",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000638190.1:c.913T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492539.1:p.Trp305Arg",
        "hgvsWellDefined": "ENSP00000492539.1:p.Trp305Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764407"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 821,
          "referenceAllele": "T",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000638272.1:c.760T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491508.1:p.Trp254Arg",
        "hgvsWellDefined": "ENSP00000491508.1:p.Trp254Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1240,
          "referenceAllele": "T",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000638971.1:c.1129T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492313.1:p.Trp377Arg",
        "hgvsWellDefined": "ENSP00000492313.1:p.Trp377Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764796"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1280,
          "referenceAllele": "T",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000639393.1:c.1219T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492651.1:p.Trp407Arg",
        "hgvsWellDefined": "ENSP00000492651.1:p.Trp407Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 978,
          "referenceAllele": "T",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000640633.1:n.978T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1366,
          "endIntronDirection": "-",
          "endIntronOffset": 62,
          "referenceAllele": "A",
          "start": 1366,
          "startIntronDirection": "-",
          "startIntronOffset": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023510",
      "geneNCBI_id": 54838,
      "geneSymbol": "WBP1L",
      "hgvs": [
        "ENST00000647664.1:c.*629-63A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498131.1:n.*629-63A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1388,
          "referenceAllele": "T",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000369887.3:c.1216T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358903.3:p.Trp406Arg",
        "hgvsWellDefined": "ENSP00000358903.3:p.Trp406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267758"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 169,
          "referenceAllele": "T",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000469683.1:n.169T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101518",
      "coordinates": [
        {
          "allele": "C",
          "end": 1388,
          "referenceAllele": "T",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "NM_000102.3:c.1216T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000093.1:p.Trp406Arg",
        "hgvsWellDefined": "NP_000093.1:p.Trp406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101518",
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "referenceAllele": "T",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "NM_000102.4:c.1216T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000093.1:p.Trp406Arg",
        "hgvsWellDefined": "NP_000093.1:p.Trp406Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662317",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369887.4:c.1216T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000102.4:c.1216T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358903.3:p.Trp406Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000093.1:p.Trp406Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}