{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115205",
  "communityStandardTitle": [
    "NM_000102.4(CYP17A1):c.1358T>C (p.Phe453Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16845[alleleid]",
        "alleleId": 16845,
        "preferredName": "NM_000102.4(CYP17A1):c.1358T>C (p.Phe453Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1806",
        "RCV": [
          "RCV000001879"
        ],
        "variationId": 1806
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.104590628A>G?assembly=hg19",
        "id": "chr10:g.104590628A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.102830871A>G?assembly=hg38",
        "id": "chr10:g.102830871A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894151",
        "rs": 104894151
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 102830871,
          "referenceAllele": "A",
          "start": 102830870
        }
      ],
      "hgvs": [
        "NC_000010.11:g.102830871A>G",
        "CM000672.2:g.102830871A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 104590628,
          "referenceAllele": "A",
          "start": 104590627
        }
      ],
      "hgvs": [
        "NC_000010.10:g.104590628A>G",
        "CM000672.1:g.104590628A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 104580618,
          "referenceAllele": "A",
          "start": 104580617
        }
      ],
      "hgvs": [
        "NC_000010.9:g.104580618A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11663,
          "referenceAllele": "T",
          "start": 11662
        }
      ],
      "hgvs": [
        "NG_007955.1:g.11663T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000723"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "referenceAllele": "T",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000369887.4:c.1358T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358903.3:p.Phe453Ser",
        "hgvsWellDefined": "ENSP00000358903.3:p.Phe453Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750499",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369887.4:c.1358T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000102.4:c.1358T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358903.3:p.Phe453Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000093.1:p.Phe453Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "T",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000638190.1:c.1055T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492539.1:p.Phe352Ser",
        "hgvsWellDefined": "ENSP00000492539.1:p.Phe352Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764407"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 963,
          "referenceAllele": "T",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000638272.1:c.902T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491508.1:p.Phe301Ser",
        "hgvsWellDefined": "ENSP00000491508.1:p.Phe301Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1382,
          "referenceAllele": "T",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000638971.1:c.1271T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492313.1:p.Phe424Ser",
        "hgvsWellDefined": "ENSP00000492313.1:p.Phe424Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764796"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "referenceAllele": "T",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000639393.1:c.1361T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492651.1:p.Phe454Ser",
        "hgvsWellDefined": "ENSP00000492651.1:p.Phe454Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1120,
          "referenceAllele": "T",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000640633.1:n.1120T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1291,
          "referenceAllele": "A",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023510",
      "geneNCBI_id": 54838,
      "geneSymbol": "WBP1L",
      "hgvs": [
        "ENST00000647664.1:c.*553A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498131.1:n.*553A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1530,
          "referenceAllele": "T",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000369887.3:c.1358T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358903.3:p.Phe453Ser",
        "hgvsWellDefined": "ENSP00000358903.3:p.Phe453Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115206",
      "coordinates": [
        {
          "allele": "C",
          "end": 1530,
          "referenceAllele": "T",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "NM_000102.3:c.1358T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000093.1:p.Phe453Ser",
        "hgvsWellDefined": "NP_000093.1:p.Phe453Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115206",
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "referenceAllele": "T",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "NM_000102.4:c.1358T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000093.1:p.Phe453Ser",
        "hgvsWellDefined": "NP_000093.1:p.Phe453Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662317",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369887.4:c.1358T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000102.4:c.1358T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358903.3:p.Phe453Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000093.1:p.Phe453Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}