{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1035973",
  "communityStandardTitle": [
    "NM_000198.4(HSD3B2):c.424G>T (p.Glu142Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2925303[alleleid]",
        "alleleId": 2925303,
        "preferredName": "NM_000198.4(HSD3B2):c.424G>T (p.Glu142Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2761538",
        "RCV": [
          "RCV003567669"
        ],
        "variationId": 2761538
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-119964548-G-T",
        "id": "1-119964548-G-T",
        "variant": "1:119964548 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.119964548G>T?assembly=hg19",
        "id": "chr1:g.119964548G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.119421925G>T?assembly=hg38",
        "id": "chr1:g.119421925G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358219",
        "rs": 80358219
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-119964548-G-T?dataset=gnomad_r2_1",
        "id": "1-119964548-G-T",
        "variant": "1:119964548 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-119421925-G-T?dataset=gnomad_r3",
        "id": "1-119421925-G-T",
        "variant": "1:119421925 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-119421925-G-T?dataset=gnomad_r4",
        "id": "1-119421925-G-T",
        "variant": "1:119421925 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 119421925,
          "referenceAllele": "G",
          "start": 119421924
        }
      ],
      "hgvs": [
        "NC_000001.11:g.119421925G>T",
        "CM000663.2:g.119421925G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 119964548,
          "referenceAllele": "G",
          "start": 119964547
        }
      ],
      "hgvs": [
        "NC_000001.10:g.119964548G>T",
        "CM000663.1:g.119964548G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 119766071,
          "referenceAllele": "G",
          "start": 119766070
        }
      ],
      "hgvs": [
        "NC_000001.9:g.119766071G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11995,
          "referenceAllele": "G",
          "start": 11994
        }
      ],
      "hgvs": [
        "NG_013349.1:g.11995G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002801"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "ENST00000369416.4:c.424G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358424.3:p.Glu142Ter",
        "hgvsWellDefined": "ENSP00000358424.3:p.Glu144_Gln372delinsProLeuGluAsnThrTrpProThrProTyrProTyrSerLysLysLeuAlaGluLysAlaValLeuAlaAlaAsnGlyTrpAsnLeuLysAsnGlyAspThrLeuTyrThrCysAlaLeuArgProThrTyrIleTyrGlyGluGlyGlyProPheLeuSerAlaSerIleAsnGluAlaLeuAsnAsnAsnGlyIleLeuSerSerValGlyLysPheSerThrValAsnProValTyrValGlyAsnValAlaTrpAlaHisIleLeuAlaLeuArgAlaLeuArgAspProLysLysAlaProSerValArgGlyGlnPheTyrTyrIleSerAspAspThrProHisGlnSerTyrAspAsnLeuAsnTyrIleLeuSerLysGluPheGlyLeuArgLeuAspSerArgTrpSerLeuProLeuThrLeuMetTyrTrpIleGlyPheLeuLeuGluValValSerPheLeuLeuSerProIleTyrSerTyrGlnProProPheAsnArgHisThrValThrLeuSerAsnSerValPheThrPheSerTyrLysLysAlaGlnArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369416.4:c.424G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000198.4:c.424G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358424.3:p.Glu142Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000189.1:p.Glu142Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "ENST00000369416.3:c.424G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358424.3:p.Glu142Ter",
        "hgvsWellDefined": "ENSP00000358424.3:p.Glu144_Gln372delinsProLeuGluAsnThrTrpProThrProTyrProTyrSerLysLysLeuAlaGluLysAlaValLeuAlaAlaAsnGlyTrpAsnLeuLysAsnGlyAspThrLeuTyrThrCysAlaLeuArgProThrTyrIleTyrGlyGluGlyGlyProPheLeuSerAlaSerIleAsnGluAlaLeuAsnAsnAsnGlyIleLeuSerSerValGlyLysPheSerThrValAsnProValTyrValGlyAsnValAlaTrpAlaHisIleLeuAlaLeuArgAlaLeuArgAspProLysLysAlaProSerValArgGlyGlnPheTyrTyrIleSerAspAspThrProHisGlnSerTyrAspAsnLeuAsnTyrIleLeuSerLysGluPheGlyLeuArgLeuAspSerArgTrpSerLeuProLeuThrLeuMetTyrTrpIleGlyPheLeuLeuGluValValSerPheLeuLeuSerProIleTyrSerTyrGlnProProPheAsnArgHisThrValThrLeuSerAsnSerValPheThrPheSerTyrLysLysAlaGlnArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "G",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "ENST00000433745.5:c.424G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388292.1:p.Glu142Ter",
        "hgvsWellDefined": "ENSP00000388292.1:p.Glu142Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "ENST00000448448.2:n.368G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "ENST00000543831.5:c.424G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445122.1:p.Glu142Ter",
        "hgvsWellDefined": "ENSP00000445122.1:p.Glu144_Gln372delinsProLeuGluAsnThrTrpProThrProTyrProTyrSerLysLysLeuAlaGluLysAlaValLeuAlaAlaAsnGlyTrpAsnLeuLysAsnGlyAspThrLeuTyrThrCysAlaLeuArgProThrTyrIleTyrGlyGluGlyGlyProPheLeuSerAlaSerIleAsnGluAlaLeuAsnAsnAsnGlyIleLeuSerSerValGlyLysPheSerThrValAsnProValTyrValGlyAsnValAlaTrpAlaHisIleLeuAlaLeuArgAlaLeuArgAspProLysLysAlaProSerValArgGlyGlnPheTyrTyrIleSerAspAspThrProHisGlnSerTyrAspAsnLeuAsnTyrIleLeuSerLysGluPheGlyLeuArgLeuAspSerArgTrpSerLeuProLeuThrLeuMetTyrTrpIleGlyPheLeuLeuGluValValSerPheLeuLeuSerProIleTyrSerTyrGlnProProPheAsnArgHisThrValThrLeuSerAsnSerValPheThrPheSerTyrLysLysAlaGlnArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364237"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825080002",
      "coordinates": [
        {
          "allele": "T",
          "end": 596,
          "referenceAllele": "G",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "NM_000198.3:c.424G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000189.1:p.Glu142Ter",
        "hgvsWellDefined": "NP_000189.1:p.Glu144_Gln372delinsProLeuGluAsnThrTrpProThrProTyrProTyrSerLysLysLeuAlaGluLysAlaValLeuAlaAlaAsnGlyTrpAsnLeuLysAsnGlyAspThrLeuTyrThrCysAlaLeuArgProThrTyrIleTyrGlyGluGlyGlyProPheLeuSerAlaSerIleAsnGluAlaLeuAsnAsnAsnGlyIleLeuSerSerValGlyLysPheSerThrValAsnProValTyrValGlyAsnValAlaTrpAlaHisIleLeuAlaLeuArgAlaLeuArgAspProLysLysAlaProSerValArgGlyGlnPheTyrTyrIleSerAspAspThrProHisGlnSerTyrAspAsnLeuAsnTyrIleLeuSerLysGluPheGlyLeuArgLeuAspSerArgTrpSerLeuProLeuThrLeuMetTyrTrpIleGlyPheLeuLeuGluValValSerPheLeuLeuSerProIleTyrSerTyrGlnProProPheAsnArgHisThrValThrLeuSerAsnSerValPheThrPheSerTyrLysLysAlaGlnArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741840466",
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "NM_001166120.1:c.424G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159592.1:p.Glu142Ter",
        "hgvsWellDefined": "NP_001159592.1:p.Glu144_Gln372delinsProLeuGluAsnThrTrpProThrProTyrProTyrSerLysLysLeuAlaGluLysAlaValLeuAlaAlaAsnGlyTrpAsnLeuLysAsnGlyAspThrLeuTyrThrCysAlaLeuArgProThrTyrIleTyrGlyGluGlyGlyProPheLeuSerAlaSerIleAsnGluAlaLeuAsnAsnAsnGlyIleLeuSerSerValGlyLysPheSerThrValAsnProValTyrValGlyAsnValAlaTrpAlaHisIleLeuAlaLeuArgAlaLeuArgAspProLysLysAlaProSerValArgGlyGlnPheTyrTyrIleSerAspAspThrProHisGlnSerTyrAspAsnLeuAsnTyrIleLeuSerLysGluPheGlyLeuArgLeuAspSerArgTrpSerLeuProLeuThrLeuMetTyrTrpIleGlyPheLeuLeuGluValValSerPheLeuLeuSerProIleTyrSerTyrGlnProProPheAsnArgHisThrValThrLeuSerAsnSerValPheThrPheSerTyrLysLysAlaGlnArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825080002",
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "NM_000198.4:c.424G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000189.1:p.Glu142Ter",
        "hgvsWellDefined": "NP_000189.1:p.Glu144_Gln372delinsProLeuGluAsnThrTrpProThrProTyrProTyrSerLysLysLeuAlaGluLysAlaValLeuAlaAlaAsnGlyTrpAsnLeuLysAsnGlyAspThrLeuTyrThrCysAlaLeuArgProThrTyrIleTyrGlyGluGlyGlyProPheLeuSerAlaSerIleAsnGluAlaLeuAsnAsnAsnGlyIleLeuSerSerValGlyLysPheSerThrValAsnProValTyrValGlyAsnValAlaTrpAlaHisIleLeuAlaLeuArgAlaLeuArgAspProLysLysAlaProSerValArgGlyGlnPheTyrTyrIleSerAspAspThrProHisGlnSerTyrAspAsnLeuAsnTyrIleLeuSerLysGluPheGlyLeuArgLeuAspSerArgTrpSerLeuProLeuThrLeuMetTyrTrpIleGlyPheLeuLeuGluValValSerPheLeuLeuSerProIleTyrSerTyrGlnProProPheAsnArgHisThrValThrLeuSerAsnSerValPheThrPheSerTyrLysLysAlaGlnArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662352",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369416.4:c.424G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000198.4:c.424G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358424.3:p.Glu142Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000189.1:p.Glu142Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741840466",
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "NM_001166120.2:c.424G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159592.1:p.Glu142Ter",
        "hgvsWellDefined": "NP_001159592.1:p.Glu144_Gln372delinsProLeuGluAsnThrTrpProThrProTyrProTyrSerLysLysLeuAlaGluLysAlaValLeuAlaAlaAsnGlyTrpAsnLeuLysAsnGlyAspThrLeuTyrThrCysAlaLeuArgProThrTyrIleTyrGlyGluGlyGlyProPheLeuSerAlaSerIleAsnGluAlaLeuAsnAsnAsnGlyIleLeuSerSerValGlyLysPheSerThrValAsnProValTyrValGlyAsnValAlaTrpAlaHisIleLeuAlaLeuArgAlaLeuArgAspProLysLysAlaProSerValArgGlyGlnPheTyrTyrIleSerAspAspThrProHisGlnSerTyrAspAsnLeuAsnTyrIleLeuSerLysGluPheGlyLeuArgLeuAspSerArgTrpSerLeuProLeuThrLeuMetTyrTrpIleGlyPheLeuLeuGluValValSerPheLeuLeuSerProIleTyrSerTyrGlnProProPheAsnArgHisThrValThrLeuSerAsnSerValPheThrPheSerTyrLysLysAlaGlnArgAspLeuAlaTyrLysProLeuTyrSerTrpGluGluAlaLysGlnLysThrValGluTrpValGlySerLeuValAspArgHisLysGluThrLeuLysSerLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713169"
    }
  ],
  "type": "nucleotide"
}