{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3180338503",
  "communityStandardTitle": [
    "NM_000102.4(CYP17A1):c.380T= (p.Leu127=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2493243113",
        "rs": 2493243113
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 102835310,
          "referenceAllele": "A",
          "start": 102835309
        }
      ],
      "hgvs": [
        "NC_000010.11:g.102835310A=",
        "CM000672.2:g.102835310A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 104595067,
          "referenceAllele": "A",
          "start": 104595066
        }
      ],
      "hgvs": [
        "NC_000010.10:g.104595067A=",
        "CM000672.1:g.104595067A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 104585057,
          "referenceAllele": "A",
          "start": 104585056
        }
      ],
      "hgvs": [
        "NC_000010.9:g.104585057A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7224,
          "referenceAllele": "T",
          "start": 7223
        }
      ],
      "hgvs": [
        "NG_007955.1:g.7224T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000723"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "T",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000369887.4:c.380T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358903.3:p.Leu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750499",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369887.4:c.380T="
          },
          "RefSeq": {
            "hgvs": "NM_000102.4:c.380T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358903.3:p.Leu127="
          },
          "RefSeq": {
            "hgvs": "NP_000093.1:p.Leu127="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "T",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000638190.1:c.380T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492539.1:p.Leu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "endIntronDirection": "+",
          "endIntronOffset": 1755,
          "referenceAllele": "T",
          "start": 358,
          "startIntronDirection": "+",
          "startIntronOffset": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000638272.1:c.297+1755T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491508.1:n.297+1755T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "T",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000638971.1:c.380T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492313.1:p.Leu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "T",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000639393.1:c.380T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492651.1:p.Leu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142,
          "referenceAllele": "T",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000640633.1:n.142T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "referenceAllele": "T",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000369887.3:c.380T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358903.3:p.Leu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "referenceAllele": "T",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "ENST00000489268.1:n.634T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327369"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825068552",
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "referenceAllele": "T",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "NM_000102.3:c.380T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000093.1:p.Leu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825068552",
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "T",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002593",
      "geneNCBI_id": 1586,
      "geneSymbol": "CYP17A1",
      "hgvs": [
        "NM_000102.4:c.380T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000093.1:p.Leu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662317",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369887.4:c.380T="
          },
          "RefSeq": {
            "hgvs": "NM_000102.4:c.380T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358903.3:p.Leu127="
          },
          "RefSeq": {
            "hgvs": "NP_000093.1:p.Leu127="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}