{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350575424",
  "communityStandardTitle": [
    "NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=795163[alleleid]",
        "alleleId": 795163,
        "preferredName": "NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/809159",
        "RCV": [
          "RCV000997667",
          "RCV003769365"
        ],
        "variationId": 809159
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219646938G>A?assembly=hg19",
        "id": "chr2:g.219646938G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.218782215G>A?assembly=hg38",
        "id": "chr2:g.218782215G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1319938730",
        "rs": 1319938730
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219646938-G-A?dataset=gnomad_r2_1",
        "id": "2-219646938-G-A",
        "variant": "2:219646938 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218782215-G-A?dataset=gnomad_r4",
        "id": "2-218782215-G-A",
        "variant": "2:218782215 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 218782215,
          "referenceAllele": "G",
          "start": 218782214
        }
      ],
      "hgvs": [
        "NC_000002.12:g.218782215G>A",
        "CM000664.2:g.218782215G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 219646938,
          "referenceAllele": "G",
          "start": 219646937
        }
      ],
      "hgvs": [
        "NC_000002.11:g.219646938G>A",
        "CM000664.1:g.219646938G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 219355182,
          "referenceAllele": "G",
          "start": 219355181
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219355182G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5467,
          "referenceAllele": "G",
          "start": 5466
        }
      ],
      "hgvs": [
        "NG_007959.1:g.5467G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000727"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 69,
          "referenceAllele": "G",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000258415.9:c.33G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258415.4:p.Trp11Ter",
        "hgvsWellDefined": "ENSP00000258415.4:p.Trp11_Cys531delinsAlaLeuArgGlyAlaGlyArgGlyLeuCysProHisGlyAlaArgAlaLysAlaAlaIleProAlaAlaLeuProSerAspLysAlaThrGlyAlaProGlyAlaGlyProGlyValArgArgArgGlnArgSerLeuGluGluIleProArgLeuGlyGlnLeuArgPhePhePheGlnLeuPheValGlnGlyTyrAlaLeuGlnLeuHisGlnLeuGlnValLeuTyrLysAlaLysTyrGlyProMetTrpMetSerTyrLeuGlyProGlnMetHisValAsnLeuAlaSerAlaProLeuLeuGluGlnValMetArgGlnGluGlyLysTyrProValArgAsnAspMetGluLeuTrpLysGluHisArgAspGlnHisAspLeuThrTyrGlyProPheThrThrGluGlyHisHisTrpTyrGlnLeuArgGlnAlaLeuAsnGlnArgLeuLeuLysProAlaGluAlaAlaLeuTyrThrAspAlaPheAsnGluValIleAspAspPheMetThrArgLeuAspGlnLeuArgAlaGluSerAlaSerGlyAsnGlnValSerAspMetAlaGlnLeuPheTyrTyrPheAlaLeuGluAlaIleCysTyrIleLeuPheGluLysArgIleGlyCysLeuGlnArgSerIleProGluAspThrValThrPheValArgSerIleGlyLeuMetPheGlnAsnSerLeuTyrAlaThrPheLeuProLysTrpThrArgProValLeuProPheTrpLysArgTyrLeuAspGlyTrpAsnAlaIlePheSerPheGlyLysLysLeuIleAspGluLysLeuGluAspMetGluAlaGlnLeuGlnAlaAlaGlyProAspGlyIleGlnValSerGlyTyrLeuHisPheLeuLeuAlaSerGlyGlnLeuSerProArgGluAlaMetGlySerLeuProGluLeuLeuMetAlaGlyValAspThrThrSerAsnThrLeuThrTrpAlaLeuTyrHisLeuSerLysAspProGluIleGlnGluAlaLeuHisGluGluValValGlyValValProAlaGlyGlnValProGlnHisLysAspPheAlaHisMetProLeuLeuLysAlaValLeuLysGluThrLeuArgLeuTyrProValValProThrAsnSerArgIleIleGluLysGluIleGluValAspGlyPheLeuPheProLysAsnThrGlnPheValPheCysHisTyrValValSerArgAspProThrAlaPheSerGluProGluSerPheGlnProHisArgTrpLeuArgAsnSerGlnProAlaThrProArgIleGlnHisProPheGlySerValProPheGlyTyrGlyValArgAlaCysLeuGlyArgArgIleAlaGluLeuGluMetGlnLeuLeuLeuAlaArgLeuIleGlnLysTyrLysValValLeuAlaProGluThrGlyGluLeuLysSerValAlaArgIleValLeuValProAsnLysLysValGlyLeuGlnPheLeuGlnArgGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258415.9:c.33G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000784.4:c.33G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258415.4:p.Trp11Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Trp11Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000258415.8:c.33G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258415.4:p.Trp11Ter",
        "hgvsWellDefined": "ENSP00000258415.4:p.Trp11_Cys531delinsAlaLeuArgGlyAlaGlyArgGlyLeuCysProHisGlyAlaArgAlaLysAlaAlaIleProAlaAlaLeuProSerAspLysAlaThrGlyAlaProGlyAlaGlyProGlyValArgArgArgGlnArgSerLeuGluGluIleProArgLeuGlyGlnLeuArgPhePhePheGlnLeuPheValGlnGlyTyrAlaLeuGlnLeuHisGlnLeuGlnValLeuTyrLysAlaLysTyrGlyProMetTrpMetSerTyrLeuGlyProGlnMetHisValAsnLeuAlaSerAlaProLeuLeuGluGlnValMetArgGlnGluGlyLysTyrProValArgAsnAspMetGluLeuTrpLysGluHisArgAspGlnHisAspLeuThrTyrGlyProPheThrThrGluGlyHisHisTrpTyrGlnLeuArgGlnAlaLeuAsnGlnArgLeuLeuLysProAlaGluAlaAlaLeuTyrThrAspAlaPheAsnGluValIleAspAspPheMetThrArgLeuAspGlnLeuArgAlaGluSerAlaSerGlyAsnGlnValSerAspMetAlaGlnLeuPheTyrTyrPheAlaLeuGluAlaIleCysTyrIleLeuPheGluLysArgIleGlyCysLeuGlnArgSerIleProGluAspThrValThrPheValArgSerIleGlyLeuMetPheGlnAsnSerLeuTyrAlaThrPheLeuProLysTrpThrArgProValLeuProPheTrpLysArgTyrLeuAspGlyTrpAsnAlaIlePheSerPheGlyLysLysLeuIleAspGluLysLeuGluAspMetGluAlaGlnLeuGlnAlaAlaGlyProAspGlyIleGlnValSerGlyTyrLeuHisPheLeuLeuAlaSerGlyGlnLeuSerProArgGluAlaMetGlySerLeuProGluLeuLeuMetAlaGlyValAspThrThrSerAsnThrLeuThrTrpAlaLeuTyrHisLeuSerLysAspProGluIleGlnGluAlaLeuHisGluGluValValGlyValValProAlaGlyGlnValProGlnHisLysAspPheAlaHisMetProLeuLeuLysAlaValLeuLysGluThrLeuArgLeuTyrProValValProThrAsnSerArgIleIleGluLysGluIleGluValAspGlyPheLeuPheProLysAsnThrGlnPheValPheCysHisTyrValValSerArgAspProThrAlaPheSerGluProGluSerPheGlnProHisArgTrpLeuArgAsnSerGlnProAlaThrProArgIleGlnHisProPheGlySerValProPheGlyTyrGlyValArgAlaCysLeuGlyArgArgIleAlaGluLeuGluMetGlnLeuLeuLeuAlaArgLeuIleGlnLysTyrLysValValLeuAlaProGluThrGlyGluLeuLysSerValAlaArgIleValLeuValProAsnLysLysValGlyLeuGlnPheLeuGlnArgGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63,
          "referenceAllele": "G",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000445971.1:c.33G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404945.1:p.Trp11Ter",
        "hgvsWellDefined": "ENSP00000404945.1:p.Trp11_Gln115delinsAlaLeuArgGlyAlaGlyArgGlyLeuCysProHisGlyAlaArgAlaLysAlaAlaIleProAlaAlaLeuProSerAspLysAlaThrGlyAlaProGlyAlaGlyProGlyValArgArgArgGlnArgSerLeuGluGluIleProArgLeuGlyGlnLeuArgPhePhePheGlnLeuPheValGlnGlyTyrAlaLeuGlnLeuHisGlnLeuGlnGlyArgThrProLeuValProAlaAlaProGlySerGluProAlaValAlaGluAlaSerGlySerSerAlaLeuTyrGlyCysPheGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "G",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000466602.1:n.42G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "referenceAllele": "G",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000494263.5:n.467G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915965223",
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "referenceAllele": "G",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NM_000784.3:c.33G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000775.1:p.Trp11Ter",
        "hgvsWellDefined": "NP_000775.1:p.Trp11_Cys531delinsAlaLeuArgGlyAlaGlyArgGlyLeuCysProHisGlyAlaArgAlaLysAlaAlaIleProAlaAlaLeuProSerAspLysAlaThrGlyAlaProGlyAlaGlyProGlyValArgArgArgGlnArgSerLeuGluGluIleProArgLeuGlyGlnLeuArgPhePhePheGlnLeuPheValGlnGlyTyrAlaLeuGlnLeuHisGlnLeuGlnValLeuTyrLysAlaLysTyrGlyProMetTrpMetSerTyrLeuGlyProGlnMetHisValAsnLeuAlaSerAlaProLeuLeuGluGlnValMetArgGlnGluGlyLysTyrProValArgAsnAspMetGluLeuTrpLysGluHisArgAspGlnHisAspLeuThrTyrGlyProPheThrThrGluGlyHisHisTrpTyrGlnLeuArgGlnAlaLeuAsnGlnArgLeuLeuLysProAlaGluAlaAlaLeuTyrThrAspAlaPheAsnGluValIleAspAspPheMetThrArgLeuAspGlnLeuArgAlaGluSerAlaSerGlyAsnGlnValSerAspMetAlaGlnLeuPheTyrTyrPheAlaLeuGluAlaIleCysTyrIleLeuPheGluLysArgIleGlyCysLeuGlnArgSerIleProGluAspThrValThrPheValArgSerIleGlyLeuMetPheGlnAsnSerLeuTyrAlaThrPheLeuProLysTrpThrArgProValLeuProPheTrpLysArgTyrLeuAspGlyTrpAsnAlaIlePheSerPheGlyLysLysLeuIleAspGluLysLeuGluAspMetGluAlaGlnLeuGlnAlaAlaGlyProAspGlyIleGlnValSerGlyTyrLeuHisPheLeuLeuAlaSerGlyGlnLeuSerProArgGluAlaMetGlySerLeuProGluLeuLeuMetAlaGlyValAspThrThrSerAsnThrLeuThrTrpAlaLeuTyrHisLeuSerLysAspProGluIleGlnGluAlaLeuHisGluGluValValGlyValValProAlaGlyGlnValProGlnHisLysAspPheAlaHisMetProLeuLeuLysAlaValLeuLysGluThrLeuArgLeuTyrProValValProThrAsnSerArgIleIleGluLysGluIleGluValAspGlyPheLeuPheProLysAsnThrGlnPheValPheCysHisTyrValValSerArgAspProThrAlaPheSerGluProGluSerPheGlnProHisArgTrpLeuArgAsnSerGlnProAlaThrProArgIleGlnHisProPheGlySerValProPheGlyTyrGlyValArgAlaCysLeuGlyArgArgIleAlaGluLeuGluMetGlnLeuLeuLeuAlaArgLeuIleGlnLysTyrLysValValLeuAlaProGluThrGlyGluLeuLysSerValAlaArgIleValLeuValProAsnLysLysValGlyLeuGlnPheLeuGlnArgGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 483,
          "referenceAllele": "G",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "XM_017003488.2:c.-197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858977.1:n.-197G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915965223",
      "coordinates": [
        {
          "allele": "A",
          "end": 69,
          "referenceAllele": "G",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NM_000784.4:c.33G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000775.1:p.Trp11Ter",
        "hgvsWellDefined": "NP_000775.1:p.Trp11_Cys531delinsAlaLeuArgGlyAlaGlyArgGlyLeuCysProHisGlyAlaArgAlaLysAlaAlaIleProAlaAlaLeuProSerAspLysAlaThrGlyAlaProGlyAlaGlyProGlyValArgArgArgGlnArgSerLeuGluGluIleProArgLeuGlyGlnLeuArgPhePhePheGlnLeuPheValGlnGlyTyrAlaLeuGlnLeuHisGlnLeuGlnValLeuTyrLysAlaLysTyrGlyProMetTrpMetSerTyrLeuGlyProGlnMetHisValAsnLeuAlaSerAlaProLeuLeuGluGlnValMetArgGlnGluGlyLysTyrProValArgAsnAspMetGluLeuTrpLysGluHisArgAspGlnHisAspLeuThrTyrGlyProPheThrThrGluGlyHisHisTrpTyrGlnLeuArgGlnAlaLeuAsnGlnArgLeuLeuLysProAlaGluAlaAlaLeuTyrThrAspAlaPheAsnGluValIleAspAspPheMetThrArgLeuAspGlnLeuArgAlaGluSerAlaSerGlyAsnGlnValSerAspMetAlaGlnLeuPheTyrTyrPheAlaLeuGluAlaIleCysTyrIleLeuPheGluLysArgIleGlyCysLeuGlnArgSerIleProGluAspThrValThrPheValArgSerIleGlyLeuMetPheGlnAsnSerLeuTyrAlaThrPheLeuProLysTrpThrArgProValLeuProPheTrpLysArgTyrLeuAspGlyTrpAsnAlaIlePheSerPheGlyLysLysLeuIleAspGluLysLeuGluAspMetGluAlaGlnLeuGlnAlaAlaGlyProAspGlyIleGlnValSerGlyTyrLeuHisPheLeuLeuAlaSerGlyGlnLeuSerProArgGluAlaMetGlySerLeuProGluLeuLeuMetAlaGlyValAspThrThrSerAsnThrLeuThrTrpAlaLeuTyrHisLeuSerLysAspProGluIleGlnGluAlaLeuHisGluGluValValGlyValValProAlaGlyGlnValProGlnHisLysAspPheAlaHisMetProLeuLeuLysAlaValLeuLysGluThrLeuArgLeuTyrProValValProThrAsnSerArgIleIleGluLysGluIleGluValAspGlyPheLeuPheProLysAsnThrGlnPheValPheCysHisTyrValValSerArgAspProThrAlaPheSerGluProGluSerPheGlnProHisArgTrpLeuArgAsnSerGlnProAlaThrProArgIleGlnHisProPheGlySerValProPheGlyTyrGlyValArgAlaCysLeuGlyArgArgIleAlaGluLeuGluMetGlnLeuLeuLeuAlaArgLeuIleGlnLysTyrLysValValLeuAlaProGluThrGlyGluLeuLysSerValAlaArgIleValLeuValProAsnLysLysValGlyLeuGlnPheLeuGlnArgGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662578",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258415.9:c.33G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000784.4:c.33G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258415.4:p.Trp11Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Trp11Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}