{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA30212300",
  "communityStandardTitle": [
    "NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=941398[alleleid]",
        "alleleId": 941398,
        "preferredName": "NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/956384",
        "RCV": [
          "RCV001229175",
          "RCV001833981"
        ],
        "variationId": 956384
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.119965124C>T?assembly=hg19",
        "id": "chr1:g.119965124C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.119422501C>T?assembly=hg38",
        "id": "chr1:g.119422501C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/905880501",
        "rs": 905880501
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-119422501-C-T?dataset=gnomad_r4",
        "id": "1-119422501-C-T",
        "variant": "1:119422501 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 119422501,
          "referenceAllele": "C",
          "start": 119422500
        }
      ],
      "hgvs": [
        "NC_000001.11:g.119422501C>T",
        "CM000663.2:g.119422501C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 119965124,
          "referenceAllele": "C",
          "start": 119965123
        }
      ],
      "hgvs": [
        "NC_000001.10:g.119965124C>T",
        "CM000663.1:g.119965124C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 119766647,
          "referenceAllele": "C",
          "start": 119766646
        }
      ],
      "hgvs": [
        "NC_000001.9:g.119766647C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12571,
          "referenceAllele": "C",
          "start": 12570
        }
      ],
      "hgvs": [
        "NG_013349.1:g.12571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002801"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1142,
          "referenceAllele": "C",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "ENST00000369416.4:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358424.3:p.Gln334Ter",
        "hgvsWellDefined": "ENSP00000358424.3:p.Gln334_Gln372delinsArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369416.4:c.1000C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000198.4:c.1000C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358424.3:p.Gln334Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000189.1:p.Gln334Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "ENST00000369416.3:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358424.3:p.Gln334Ter",
        "hgvsWellDefined": "ENSP00000358424.3:p.Gln334_Gln372delinsArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1249,
          "referenceAllele": "C",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "ENST00000543831.5:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445122.1:p.Gln334Ter",
        "hgvsWellDefined": "ENSP00000445122.1:p.Gln334_Gln372delinsArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364237"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825080223",
      "coordinates": [
        {
          "allele": "T",
          "end": 1172,
          "referenceAllele": "C",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "NM_000198.3:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000189.1:p.Gln334Ter",
        "hgvsWellDefined": "NP_000189.1:p.Gln334_Gln372delinsArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139693769",
      "coordinates": [
        {
          "allele": "T",
          "end": 1249,
          "referenceAllele": "C",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "NM_001166120.1:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159592.1:p.Gln334Ter",
        "hgvsWellDefined": "NP_001159592.1:p.Gln334_Gln372delinsArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825080223",
      "coordinates": [
        {
          "allele": "T",
          "end": 1142,
          "referenceAllele": "C",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "NM_000198.4:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000189.1:p.Gln334Ter",
        "hgvsWellDefined": "NP_000189.1:p.Gln334_Gln372delinsArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662352",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369416.4:c.1000C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000198.4:c.1000C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358424.3:p.Gln334Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000189.1:p.Gln334Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139693769",
      "coordinates": [
        {
          "allele": "T",
          "end": 1249,
          "referenceAllele": "C",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "NM_001166120.2:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159592.1:p.Gln334Ter",
        "hgvsWellDefined": "NP_001159592.1:p.Gln334_Gln372delinsArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713169"
    }
  ],
  "type": "nucleotide"
}