{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350585467",
  "communityStandardTitle": [
    "NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=971739[alleleid]",
        "alleleId": 971739,
        "preferredName": "NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/984201",
        "RCV": [
          "RCV001264210"
        ],
        "variationId": 984201
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219677106C>A?assembly=hg19",
        "id": "chr2:g.219677106C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.218812383C>A?assembly=hg38",
        "id": "chr2:g.218812383C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/186812403",
        "rs": 186812403
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 218812383,
          "referenceAllele": "C",
          "start": 218812382
        }
      ],
      "hgvs": [
        "NC_000002.12:g.218812383C>A",
        "CM000664.2:g.218812383C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 219677106,
          "referenceAllele": "C",
          "start": 219677105
        }
      ],
      "hgvs": [
        "NC_000002.11:g.219677106C>A",
        "CM000664.1:g.219677106C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 219385350,
          "referenceAllele": "C",
          "start": 219385349
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219385350C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35635,
          "referenceAllele": "C",
          "start": 35634
        }
      ],
      "hgvs": [
        "NG_007959.1:g.35635C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000727"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "C",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000258415.9:c.608C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258415.4:p.Ser203Ter",
        "hgvsWellDefined": "ENSP00000258415.4:p.Ser203_Cys531delinsAspMetAlaGlnLeuPheTyrTyrPheAlaLeuGluAlaIleCysTyrIleLeuPheGluLysArgIleGlyCysLeuGlnArgSerIleProGluAspThrValThrPheValArgSerIleGlyLeuMetPheGlnAsnSerLeuTyrAlaThrPheLeuProLysTrpThrArgProValLeuProPheTrpLysArgTyrLeuAspGlyTrpAsnAlaIlePheSerPheGlyLysLysLeuIleAspGluLysLeuGluAspMetGluAlaGlnLeuGlnAlaAlaGlyProAspGlyIleGlnValSerGlyTyrLeuHisPheLeuLeuAlaSerGlyGlnLeuSerProArgGluAlaMetGlySerLeuProGluLeuLeuMetAlaGlyValAspThrThrSerAsnThrLeuThrTrpAlaLeuTyrHisLeuSerLysAspProGluIleGlnGluAlaLeuHisGluGluValValGlyValValProAlaGlyGlnValProGlnHisLysAspPheAlaHisMetProLeuLeuLysAlaValLeuLysGluThrLeuArgLeuTyrProValValProThrAsnSerArgIleIleGluLysGluIleGluValAspGlyPheLeuPheProLysAsnThrGlnPheValPheCysHisTyrValValSerArgAspProThrAlaPheSerGluProGluSerPheGlnProHisArgTrpLeuArgAsnSerGlnProAlaThrProArgIleGlnHisProPheGlySerValProPheGlyTyrGlyValArgAlaCysLeuGlyArgArgIleAlaGluLeuGluMetGlnLeuLeuLeuAlaArgLeuIleGlnLysTyrLysValValLeuAlaProGluThrGlyGluLeuLysSerValAlaArgIleValLeuValProAsnLysLysValGlyLeuGlnPheLeuGlnArgGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258415.9:c.608C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000784.4:c.608C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258415.4:p.Ser203Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Ser203Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "referenceAllele": "C",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000258415.8:c.608C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258415.4:p.Ser203Ter",
        "hgvsWellDefined": "ENSP00000258415.4:p.Ser203_Cys531delinsAspMetAlaGlnLeuPheTyrTyrPheAlaLeuGluAlaIleCysTyrIleLeuPheGluLysArgIleGlyCysLeuGlnArgSerIleProGluAspThrValThrPheValArgSerIleGlyLeuMetPheGlnAsnSerLeuTyrAlaThrPheLeuProLysTrpThrArgProValLeuProPheTrpLysArgTyrLeuAspGlyTrpAsnAlaIlePheSerPheGlyLysLysLeuIleAspGluLysLeuGluAspMetGluAlaGlnLeuGlnAlaAlaGlyProAspGlyIleGlnValSerGlyTyrLeuHisPheLeuLeuAlaSerGlyGlnLeuSerProArgGluAlaMetGlySerLeuProGluLeuLeuMetAlaGlyValAspThrThrSerAsnThrLeuThrTrpAlaLeuTyrHisLeuSerLysAspProGluIleGlnGluAlaLeuHisGluGluValValGlyValValProAlaGlyGlnValProGlnHisLysAspPheAlaHisMetProLeuLeuLysAlaValLeuLysGluThrLeuArgLeuTyrProValValProThrAsnSerArgIleIleGluLysGluIleGluValAspGlyPheLeuPheProLysAsnThrGlnPheValPheCysHisTyrValValSerArgAspProThrAlaPheSerGluProGluSerPheGlnProHisArgTrpLeuArgAsnSerGlnProAlaThrProArgIleGlnHisProPheGlySerValProPheGlyTyrGlyValArgAlaCysLeuGlyArgArgIleAlaGluLeuGluMetGlnLeuLeuLeuAlaArgLeuIleGlnLysTyrLysValValLeuAlaProGluThrGlyGluLeuLysSerValAlaArgIleValLeuValProAsnLysLysValGlyLeuGlnPheLeuGlnArgGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000411688.1:c.326C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392671.1:p.Ser109Ter",
        "hgvsWellDefined": "ENSP00000392671.1:p.Ser109Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000445971.1:c.*69C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404945.1:n.*69C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000466602.1:n.426C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1042,
          "referenceAllele": "C",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000494263.5:n.1042C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139680565",
      "coordinates": [
        {
          "allele": "A",
          "end": 1042,
          "referenceAllele": "C",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NM_000784.3:c.608C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000775.1:p.Ser203Ter",
        "hgvsWellDefined": "NP_000775.1:p.Ser203_Cys531delinsAspMetAlaGlnLeuPheTyrTyrPheAlaLeuGluAlaIleCysTyrIleLeuPheGluLysArgIleGlyCysLeuGlnArgSerIleProGluAspThrValThrPheValArgSerIleGlyLeuMetPheGlnAsnSerLeuTyrAlaThrPheLeuProLysTrpThrArgProValLeuProPheTrpLysArgTyrLeuAspGlyTrpAsnAlaIlePheSerPheGlyLysLysLeuIleAspGluLysLeuGluAspMetGluAlaGlnLeuGlnAlaAlaGlyProAspGlyIleGlnValSerGlyTyrLeuHisPheLeuLeuAlaSerGlyGlnLeuSerProArgGluAlaMetGlySerLeuProGluLeuLeuMetAlaGlyValAspThrThrSerAsnThrLeuThrTrpAlaLeuTyrHisLeuSerLysAspProGluIleGlnGluAlaLeuHisGluGluValValGlyValValProAlaGlyGlnValProGlnHisLysAspPheAlaHisMetProLeuLeuLysAlaValLeuLysGluThrLeuArgLeuTyrProValValProThrAsnSerArgIleIleGluLysGluIleGluValAspGlyPheLeuPheProLysAsnThrGlnPheValPheCysHisTyrValValSerArgAspProThrAlaPheSerGluProGluSerPheGlnProHisArgTrpLeuArgAsnSerGlnProAlaThrProArgIleGlnHisProPheGlySerValProPheGlyTyrGlyValArgAlaCysLeuGlyArgArgIleAlaGluLeuGluMetGlnLeuLeuLeuAlaArgLeuIleGlnLysTyrLysValValLeuAlaProGluThrGlyGluLeuLysSerValAlaArgIleValLeuValProAsnLysLysValGlyLeuGlnPheLeuGlnArgGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "referenceAllele": "C",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "XM_017003488.2:c.188C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858977.1:p.Ser63Ter",
        "hgvsWellDefined": "XP_016858977.1:p.Ser63_Cys391delinsAspMetAlaGlnLeuPheTyrTyrPheAlaLeuGluAlaIleCysTyrIleLeuPheGluLysArgIleGlyCysLeuGlnArgSerIleProGluAspThrValThrPheValArgSerIleGlyLeuMetPheGlnAsnSerLeuTyrAlaThrPheLeuProLysTrpThrArgProValLeuProPheTrpLysArgTyrLeuAspGlyTrpAsnAlaIlePheSerPheGlyLysLysLeuIleAspGluLysLeuGluAspMetGluAlaGlnLeuGlnAlaAlaGlyProAspGlyIleGlnValSerGlyTyrLeuHisPheLeuLeuAlaSerGlyGlnLeuSerProArgGluAlaMetGlySerLeuProGluLeuLeuMetAlaGlyValAspThrThrSerAsnThrLeuThrTrpAlaLeuTyrHisLeuSerLysAspProGluIleGlnGluAlaLeuHisGluGluValValGlyValValProAlaGlyGlnValProGlnHisLysAspPheAlaHisMetProLeuLeuLysAlaValLeuLysGluThrLeuArgLeuTyrProValValProThrAsnSerArgIleIleGluLysGluIleGluValAspGlyPheLeuPheProLysAsnThrGlnPheValPheCysHisTyrValValSerArgAspProThrAlaPheSerGluProGluSerPheGlnProHisArgTrpLeuArgAsnSerGlnProAlaThrProArgIleGlnHisProPheGlySerValProPheGlyTyrGlyValArgAlaCysLeuGlyArgArgIleAlaGluLeuGluMetGlnLeuLeuLeuAlaArgLeuIleGlnLysTyrLysValValLeuAlaProGluThrGlyGluLeuLysSerValAlaArgIleValLeuValProAsnLysLysValGlyLeuGlnPheLeuGlnArgGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139680565",
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "C",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NM_000784.4:c.608C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000775.1:p.Ser203Ter",
        "hgvsWellDefined": "NP_000775.1:p.Ser203_Cys531delinsAspMetAlaGlnLeuPheTyrTyrPheAlaLeuGluAlaIleCysTyrIleLeuPheGluLysArgIleGlyCysLeuGlnArgSerIleProGluAspThrValThrPheValArgSerIleGlyLeuMetPheGlnAsnSerLeuTyrAlaThrPheLeuProLysTrpThrArgProValLeuProPheTrpLysArgTyrLeuAspGlyTrpAsnAlaIlePheSerPheGlyLysLysLeuIleAspGluLysLeuGluAspMetGluAlaGlnLeuGlnAlaAlaGlyProAspGlyIleGlnValSerGlyTyrLeuHisPheLeuLeuAlaSerGlyGlnLeuSerProArgGluAlaMetGlySerLeuProGluLeuLeuMetAlaGlyValAspThrThrSerAsnThrLeuThrTrpAlaLeuTyrHisLeuSerLysAspProGluIleGlnGluAlaLeuHisGluGluValValGlyValValProAlaGlyGlnValProGlnHisLysAspPheAlaHisMetProLeuLeuLysAlaValLeuLysGluThrLeuArgLeuTyrProValValProThrAsnSerArgIleIleGluLysGluIleGluValAspGlyPheLeuPheProLysAsnThrGlnPheValPheCysHisTyrValValSerArgAspProThrAlaPheSerGluProGluSerPheGlnProHisArgTrpLeuArgAsnSerGlnProAlaThrProArgIleGlnHisProPheGlySerValProPheGlyTyrGlyValArgAlaCysLeuGlyArgArgIleAlaGluLeuGluMetGlnLeuLeuLeuAlaArgLeuIleGlnLysTyrLysValValLeuAlaProGluThrGlyGluLeuLysSerValAlaArgIleValLeuValProAsnLysLysValGlyLeuGlnPheLeuGlnArgGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662578",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258415.9:c.608C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000784.4:c.608C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258415.4:p.Ser203Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Ser203Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}