{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5669417",
  "communityStandardTitle": [
    "NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2837358[alleleid]",
        "alleleId": 2837358,
        "preferredName": "NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2681098",
        "RCV": [
          "RCV003468633"
        ],
        "variationId": 2681098
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-104592412-A-G",
        "id": "10-104592412-A-G",
        "variant": "10:104592412 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.104592412A>G?assembly=hg19",
        "id": "chr10:g.104592412A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.102832655A>G?assembly=hg38",
        "id": "chr10:g.102832655A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/772804570",
        "rs": 772804570
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-104592412-A-G?dataset=gnomad_r2_1",
        "id": "10-104592412-A-G",
        "variant": "10:104592412 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102832655-A-G?dataset=gnomad_r3",
        "id": "10-102832655-A-G",
        "variant": "10:102832655 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102832655-A-G?dataset=gnomad_r4",
        "id": "10-102832655-A-G",
        "variant": "10:102832655 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 102832655,
          "referenceAllele": "A",
          "start": 102832654
        }
      ],
      "hgvs": [
        "NC_000010.11:g.102832655A>G",
        "CM000672.2:g.102832655A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 104592412,
          "referenceAllele": "A",
          "start": 104592411
        }
      ],
      "hgvs": [
        "NC_000010.10:g.104592412A>G",
        "CM000672.1:g.104592412A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 104582402,
          "referenceAllele": "A",
          "start": 104582401
        }
      ],
      "hgvs": [
        "NC_000010.9:g.104582402A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9879,
          "referenceAllele": "T",
          "start": 9878
        }
      ],
      "hgvs": [
        "NG_007955.1:g.9879T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000723"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1047,
          "referenceAllele": "T",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000369887.4:c.995T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358903.3:p.Ile332Thr",
        "hgvsWellDefined": "ENSP00000358903.3:p.Ile332Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750499",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369887.4:c.995T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000102.4:c.995T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358903.3:p.Ile332Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000093.1:p.Ile332Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "T",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000638190.1:c.692T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492539.1:p.Ile231Thr",
        "hgvsWellDefined": "ENSP00000492539.1:p.Ile231Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764407"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 600,
          "referenceAllele": "T",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000638272.1:c.539T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491508.1:p.Ile180Thr",
        "hgvsWellDefined": "ENSP00000491508.1:p.Ile180Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "T",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000638971.1:c.908T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492313.1:p.Ile303Thr",
        "hgvsWellDefined": "ENSP00000492313.1:p.Ile303Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764796"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1056,
          "referenceAllele": "T",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000639393.1:c.995T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492651.1:p.Ile332Thr",
        "hgvsWellDefined": "ENSP00000492651.1:p.Ile332Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "referenceAllele": "T",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000640633.1:n.757T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2424,
          "referenceAllele": "A",
          "start": 2423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023510",
      "geneNCBI_id": 54838,
      "geneSymbol": "WBP1L",
      "hgvs": [
        "ENST00000647664.1:c.*1686A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498131.1:n.*1686A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "T",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000369887.3:c.995T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358903.3:p.Ile332Thr",
        "hgvsWellDefined": "ENSP00000358903.3:p.Ile332Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809148",
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "T",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "NM_000102.3:c.995T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000093.1:p.Ile332Thr",
        "hgvsWellDefined": "NP_000093.1:p.Ile332Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809148",
      "coordinates": [
        {
          "allele": "C",
          "end": 1047,
          "referenceAllele": "T",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "NM_000102.4:c.995T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000093.1:p.Ile332Thr",
        "hgvsWellDefined": "NP_000093.1:p.Ile332Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662317",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369887.4:c.995T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000102.4:c.995T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358903.3:p.Ile332Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000093.1:p.Ile332Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}