{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5669340",
  "communityStandardTitle": [
    "NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3985394",
        "active": true,
        "id": "COSM3985394"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1329532[alleleid]",
        "alleleId": 1329532,
        "preferredName": "NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1338524",
        "RCV": [
          "RCV001817895",
          "RCV003323935",
          "RCV003470931"
        ],
        "variationId": 1338524
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-104590667-C-T",
        "id": "10-104590667-C-T",
        "variant": "10:104590667 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.104590667C>T?assembly=hg19",
        "id": "chr10:g.104590667C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.102830910C>T?assembly=hg38",
        "id": "chr10:g.102830910C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777638364",
        "rs": 777638364
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-104590667-C-T?dataset=gnomad_r2_1",
        "id": "10-104590667-C-T",
        "variant": "10:104590667 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102830910-C-T?dataset=gnomad_r4",
        "id": "10-102830910-C-T",
        "variant": "10:102830910 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 102830910,
          "referenceAllele": "C",
          "start": 102830909
        }
      ],
      "hgvs": [
        "NC_000010.11:g.102830910C>T",
        "CM000672.2:g.102830910C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 104590667,
          "referenceAllele": "C",
          "start": 104590666
        }
      ],
      "hgvs": [
        "NC_000010.10:g.104590667C>T",
        "CM000672.1:g.104590667C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 104580657,
          "referenceAllele": "C",
          "start": 104580656
        }
      ],
      "hgvs": [
        "NC_000010.9:g.104580657C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11624,
          "referenceAllele": "G",
          "start": 11623
        }
      ],
      "hgvs": [
        "NG_007955.1:g.11624G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000723"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1371,
          "referenceAllele": "G",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000369887.4:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358903.3:p.Arg440His",
        "hgvsWellDefined": "ENSP00000358903.3:p.Arg440His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750499",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369887.4:c.1319G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000102.4:c.1319G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358903.3:p.Arg440His"
          },
          "RefSeq": {
            "hgvs": "NP_000093.1:p.Arg440His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1127,
          "referenceAllele": "G",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000638190.1:c.1016G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492539.1:p.Arg339His",
        "hgvsWellDefined": "ENSP00000492539.1:p.Arg339His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000638272.1:c.863G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491508.1:p.Arg288His",
        "hgvsWellDefined": "ENSP00000491508.1:p.Arg288His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1343,
          "referenceAllele": "G",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000638971.1:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492313.1:p.Arg411His",
        "hgvsWellDefined": "ENSP00000492313.1:p.Arg411His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1383,
          "referenceAllele": "G",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000639393.1:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492651.1:p.Arg441His",
        "hgvsWellDefined": "ENSP00000492651.1:p.Arg441His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1081,
          "referenceAllele": "G",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000640633.1:n.1081G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1330,
          "referenceAllele": "C",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023510",
      "geneNCBI_id": 54838,
      "geneSymbol": "WBP1L",
      "hgvs": [
        "ENST00000647664.1:c.*592C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498131.1:n.*592C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1491,
          "referenceAllele": "G",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000369887.3:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358903.3:p.Arg440His",
        "hgvsWellDefined": "ENSP00000358903.3:p.Arg440His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101336",
      "coordinates": [
        {
          "allele": "A",
          "end": 1491,
          "referenceAllele": "G",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "NM_000102.3:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000093.1:p.Arg440His",
        "hgvsWellDefined": "NP_000093.1:p.Arg440His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101336",
      "coordinates": [
        {
          "allele": "A",
          "end": 1371,
          "referenceAllele": "G",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "NM_000102.4:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000093.1:p.Arg440His",
        "hgvsWellDefined": "NP_000093.1:p.Arg440His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662317",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369887.4:c.1319G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000102.4:c.1319G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358903.3:p.Arg440His"
          },
          "RefSeq": {
            "hgvs": "NP_000093.1:p.Arg440His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}