{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141187979",
  "communityStandardTitle": [
    "NM_000198.4(HSD3B2):c.776C= (p.Thr259=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358221",
        "rs": 80358221
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 119422277,
          "referenceAllele": "C",
          "start": 119422276
        }
      ],
      "hgvs": [
        "NC_000001.11:g.119422277C=",
        "CM000663.2:g.119422277C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 119964900,
          "referenceAllele": "C",
          "start": 119964899
        }
      ],
      "hgvs": [
        "NC_000001.10:g.119964900C=",
        "CM000663.1:g.119964900C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 119766423,
          "referenceAllele": "C",
          "start": 119766422
        }
      ],
      "hgvs": [
        "NC_000001.9:g.119766423C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12347,
          "referenceAllele": "C",
          "start": 12346
        }
      ],
      "hgvs": [
        "NG_013349.1:g.12347C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002801"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "ENST00000369416.4:c.776C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358424.3:p.Thr259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369416.4:c.776C="
          },
          "RefSeq": {
            "hgvs": "NM_000198.4:c.776C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358424.3:p.Thr259="
          },
          "RefSeq": {
            "hgvs": "NP_000189.1:p.Thr259="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 984,
          "referenceAllele": "C",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "ENST00000369416.3:c.776C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358424.3:p.Thr259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "ENST00000543831.5:c.776C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445122.1:p.Thr259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364237"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825080153",
      "coordinates": [
        {
          "allele": "C",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "NM_000198.3:c.776C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000189.1:p.Thr259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826023999",
      "coordinates": [
        {
          "allele": "C",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "NM_001166120.1:c.776C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001159592.1:p.Thr259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825080153",
      "coordinates": [
        {
          "allele": "C",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "NM_000198.4:c.776C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000189.1:p.Thr259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662352",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369416.4:c.776C="
          },
          "RefSeq": {
            "hgvs": "NM_000198.4:c.776C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358424.3:p.Thr259="
          },
          "RefSeq": {
            "hgvs": "NP_000189.1:p.Thr259="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826023999",
      "coordinates": [
        {
          "allele": "C",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "NM_001166120.2:c.776C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001159592.1:p.Thr259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713169"
    }
  ],
  "type": "nucleotide"
}