{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340451640",
  "communityStandardTitle": [
    "NM_014762.4(DHCR24):c.1204C>T (p.Gln402Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1053730[alleleid]",
        "alleleId": 1053730,
        "preferredName": "NM_014762.4(DHCR24):c.1204C>T (p.Gln402Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1065508",
        "RCV": [
          "RCV001376050"
        ],
        "variationId": 1065508
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.55319724G>A?assembly=hg19",
        "id": "chr1:g.55319724G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.54854051G>A?assembly=hg38",
        "id": "chr1:g.54854051G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2101555526",
        "rs": 2101555526
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 54854051,
          "referenceAllele": "G",
          "start": 54854050
        }
      ],
      "hgvs": [
        "NC_000001.11:g.54854051G>A",
        "CM000663.2:g.54854051G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 55319724,
          "referenceAllele": "G",
          "start": 55319723
        }
      ],
      "hgvs": [
        "NC_000001.10:g.55319724G>A",
        "CM000663.1:g.55319724G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 55092312,
          "referenceAllele": "G",
          "start": 55092311
        }
      ],
      "hgvs": [
        "NC_000001.9:g.55092312G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38198,
          "referenceAllele": "C",
          "start": 38197
        }
      ],
      "hgvs": [
        "NG_008839.1:g.38198C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001234"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1280,
          "referenceAllele": "C",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002859",
      "geneNCBI_id": 1718,
      "geneSymbol": "DHCR24",
      "hgvs": [
        "ENST00000371269.9:c.1204C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360316.3:p.Gln402Ter",
        "hgvsWellDefined": "ENSP00000360316.3:p.Gln402_His516delinsAsnAspIleHisValTyrProIleTrpLeuCysProPheIleLeuProSerGlnProGlyLeuValHisProLysGlyAsnGluAlaGluLeuTyrIleAspIleGlyAlaTyrGlyGluProArgValLysHisPheGluAlaArgSerCysMetArgGlnLeuGluLysPheValArgSerValHisGlyPheGlnMetLeuTyrAlaAspCysTyrMetAsnArgGluGluPheTrpGluMetPheAspGlySerLeuTyrHisLysLeuArgGluLysLeuGlyCysGlnAspAlaPheProGluValTyrAspLysIleCysLysAlaAlaArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750760",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371269.9:c.1204C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014762.4:c.1204C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360316.3:p.Gln402Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055577.1:p.Gln402Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1280,
          "referenceAllele": "C",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002859",
      "geneNCBI_id": 1718,
      "geneSymbol": "DHCR24",
      "hgvs": [
        "ENST00000436604.2:c.1204C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416585.2:p.Gln402Ter",
        "hgvsWellDefined": "ENSP00000416585.2:p.Gln402_His516delinsAsnAspIleHisValTyrProIleTrpLeuCysProPheIleLeuProSerGlnProGlyLeuValHisProLysGlyAsnGluAlaGluLeuTyrIleAspIleGlyAlaTyrGlyGluProArgValLysHisPheGluAlaArgSerCysMetArgGlnLeuGluLysPheValArgSerValHisGlyPheGlnMetLeuTyrAlaAspCysTyrMetAsnArgGluGluPheTrpGluMetPheAspGlySerLeuTyrHisLysLeuArgGluLysLeuGlyCysGlnAspAlaPheProGluValTyrAspLysIleCysLysAlaAlaArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002859",
      "geneNCBI_id": 1718,
      "geneSymbol": "DHCR24",
      "hgvs": [
        "ENST00000535035.6:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440191.3:p.Gln414Ter",
        "hgvsWellDefined": "ENSP00000440191.3:p.Gln414_His528delinsAsnAspIleHisValTyrProIleTrpLeuCysProPheIleLeuProSerGlnProGlyLeuValHisProLysGlyAsnGluAlaGluLeuTyrIleAspIleGlyAlaTyrGlyGluProArgValLysHisPheGluAlaArgSerCysMetArgGlnLeuGluLysPheValArgSerValHisGlyPheGlnMetLeuTyrAlaAspCysTyrMetAsnArgGluGluPheTrpGluMetPheAspGlySerLeuTyrHisLysLeuArgGluLysLeuGlyCysGlnAspAlaPheProGluValTyrAspLysIleCysLysAlaAlaArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1008,
          "referenceAllele": "C",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002859",
      "geneNCBI_id": 1718,
      "geneSymbol": "DHCR24",
      "hgvs": [
        "ENST00000647585.1:n.1008C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002859",
      "geneNCBI_id": 1718,
      "geneSymbol": "DHCR24",
      "hgvs": [
        "ENST00000647912.1:c.*839C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497559.1:n.*839C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002859",
      "geneNCBI_id": 1718,
      "geneSymbol": "DHCR24",
      "hgvs": [
        "ENST00000648712.1:n.1322C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1337,
          "referenceAllele": "C",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002859",
      "geneNCBI_id": 1718,
      "geneSymbol": "DHCR24",
      "hgvs": [
        "ENST00000648728.1:c.*859C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497084.1:n.*859C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1337,
          "referenceAllele": "C",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002859",
      "geneNCBI_id": 1718,
      "geneSymbol": "DHCR24",
      "hgvs": [
        "ENST00000649769.1:c.*859C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498012.1:n.*859C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002859",
      "geneNCBI_id": 1718,
      "geneSymbol": "DHCR24",
      "hgvs": [
        "ENST00000371269.7:c.1204C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360316.3:p.Gln402Ter",
        "hgvsWellDefined": "ENSP00000360316.3:p.Gln402_His516delinsAsnAspIleHisValTyrProIleTrpLeuCysProPheIleLeuProSerGlnProGlyLeuValHisProLysGlyAsnGluAlaGluLeuTyrIleAspIleGlyAlaTyrGlyGluProArgValLysHisPheGluAlaArgSerCysMetArgGlnLeuGluLysPheValArgSerValHisGlyPheGlnMetLeuTyrAlaAspCysTyrMetAsnArgGluGluPheTrpGluMetPheAspGlySerLeuTyrHisLysLeuArgGluLysLeuGlyCysGlnAspAlaPheProGluValTyrAspLysIleCysLysAlaAlaArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 116,
          "referenceAllele": "C",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002859",
      "geneNCBI_id": 1718,
      "geneSymbol": "DHCR24",
      "hgvs": [
        "ENST00000436604.1:c.116C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS294057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002859",
      "geneNCBI_id": 1718,
      "geneSymbol": "DHCR24",
      "hgvs": [
        "ENST00000535035.5:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440191.2:p.Gln313Ter",
        "hgvsWellDefined": "ENSP00000440191.2:p.Gln313_His427delinsAsnAspIleHisValTyrProIleTrpLeuCysProPheIleLeuProSerGlnProGlyLeuValHisProLysGlyAsnGluAlaGluLeuTyrIleAspIleGlyAlaTyrGlyGluProArgValLysHisPheGluAlaArgSerCysMetArgGlnLeuGluLysPheValArgSerValHisGlyPheGlnMetLeuTyrAlaAspCysTyrMetAsnArgGluGluPheTrpGluMetPheAspGlySerLeuTyrHisLysLeuArgGluLysLeuGlyCysGlnAspAlaPheProGluValTyrAspLysIleCysLysAlaAlaArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499279176",
      "coordinates": [
        {
          "allele": "T",
          "end": 1333,
          "referenceAllele": "C",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002859",
      "geneNCBI_id": 1718,
      "geneSymbol": "DHCR24",
      "hgvs": [
        "NM_014762.3:c.1204C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055577.1:p.Gln402Ter",
        "hgvsWellDefined": "NP_055577.1:p.Gln402_His516delinsAsnAspIleHisValTyrProIleTrpLeuCysProPheIleLeuProSerGlnProGlyLeuValHisProLysGlyAsnGluAlaGluLeuTyrIleAspIleGlyAlaTyrGlyGluProArgValLysHisPheGluAlaArgSerCysMetArgGlnLeuGluLysPheValArgSerValHisGlyPheGlnMetLeuTyrAlaAspCysTyrMetAsnArgGluGluPheTrpGluMetPheAspGlySerLeuTyrHisLysLeuArgGluLysLeuGlyCysGlnAspAlaPheProGluValTyrAspLysIleCysLysAlaAlaArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499279176",
      "coordinates": [
        {
          "allele": "T",
          "end": 1280,
          "referenceAllele": "C",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002859",
      "geneNCBI_id": 1718,
      "geneSymbol": "DHCR24",
      "hgvs": [
        "NM_014762.4:c.1204C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055577.1:p.Gln402Ter",
        "hgvsWellDefined": "NP_055577.1:p.Gln402_His516delinsAsnAspIleHisValTyrProIleTrpLeuCysProPheIleLeuProSerGlnProGlyLeuValHisProLysGlyAsnGluAlaGluLeuTyrIleAspIleGlyAlaTyrGlyGluProArgValLysHisPheGluAlaArgSerCysMetArgGlnLeuGluLysPheValArgSerValHisGlyPheGlnMetLeuTyrAlaAspCysTyrMetAsnArgGluGluPheTrpGluMetPheAspGlySerLeuTyrHisLysLeuArgGluLysLeuGlyCysGlnAspAlaPheProGluValTyrAspLysIleCysLysAlaAlaArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525617",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371269.9:c.1204C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014762.4:c.1204C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360316.3:p.Gln402Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055577.1:p.Gln402Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}