{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10654775",
  "communityStandardTitle": [
    "NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=353952[alleleid]",
        "alleleId": 353952,
        "preferredName": "NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/369726",
        "RCV": [
          "RCV000408645",
          "RCV001290674"
        ],
        "variationId": 369726
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.152991250C>T?assembly=hg19",
        "id": "chrX:g.152991250C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153725795C>T?assembly=hg38",
        "id": "chrX:g.153725795C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516052",
        "rs": 1057516052
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153725795,
          "referenceAllele": "C",
          "start": 153725794
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      ],
      "hgvs": [
        "NC_000023.11:g.153725795C>T",
        "CM000685.2:g.153725795C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 152991250,
          "referenceAllele": "C",
          "start": 152991249
        }
      ],
      "hgvs": [
        "NC_000023.10:g.152991250C>T",
        "CM000685.1:g.152991250C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 152644444,
          "referenceAllele": "C",
          "start": 152644443
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152644444C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5928,
          "referenceAllele": "C",
          "start": 5927
        }
      ],
      "hgvs": [
        "NG_009022.2:g.5928C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3952,
          "referenceAllele": "G",
          "start": 3951
        }
      ],
      "hgvs": [
        "NG_023231.1:g.3952G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003724"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "C",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.6:c.529C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Gln177Ter",
        "hgvsWellDefined": "ENSP00000218104.3:p.Gln178_Thr745delinsThrTyrTyrArgValSerAsnMetAspGlyArgLeuArgAsnProAspGlnSerLeuThrGluAspValValAlaPheAlaAlaSerValAlaHisLeuTyrSerAsnLeuThrLysProLeuLeuAspValAlaValThrSerTyrThrLeuLeuArgAlaAlaArgSerArgGlyAlaGlyThrAlaTrpProSerAlaIleAlaGlyLeuValValPheLeuThrAlaAsnValLeuArgAlaPheSerProLysPheGlyGluLeuValAlaGluGluAlaArgArgLysGlyGluLeuArgTyrMetHisSerArgValValAlaAsnSerGluGluIleAlaPheTyrGlyGlyHisGluValGluLeuAlaLeuLeuGlnArgSerTyrGlnAspLeuAlaSerGlnIleAsnLeuIleLeuLeuGluArgLeuTrpTyrValMetLeuGluGlnPheLeuMetLysTyrValTrpSerAlaSerGlyLeuLeuMetValAlaValProIleIleThrAlaThrGlyTyrSerGluSerAspAlaGluAlaValLysLysAlaAlaLeuGluLysLysGluGluGluLeuValSerGluArgThrGluAlaPheThrIleAlaArgAsnLeuLeuThrAlaAlaAlaAspAlaIleGluArgIleMetSerSerTyrLysGluValThrGluLeuAlaGlyTyrThrAlaArgValHisGluMetPheGlnValPheGluAspValGlnArgCysHisPheLysArgProArgGluLeuGluAspAlaGlnAlaGlySerGlyThrIleGlyArgSerGlyValArgValGluGlyProLeuLysIleArgGlyGlnValValAspValGluGlnGlyIleIleCysGluAsnIleProIleValThrProSerGlyGluValValValAlaSerLeuAsnIleArgValGluGluGlyMetHisLeuLeuIleThrGlyProAsnGlyCysGlyLysSerSerLeuPheArgIleLeuGlyGlyLeuTrpProThrTyrGlyGlyValLeuTyrLysProProProGlnArgMetPheTyrIleProGlnArgProTyrMetSerValGlySerLeuArgAspGlnValIleTyrProAspSerValGluAspMetGlnArgLysGlyTyrSerGluGlnAspLeuGluAlaIleLeuAspValValHisLeuHisHisIleLeuGlnArgGluGlyGlyTrpGluAlaMetCysAspTrpLysAspValLeuSerGlyGlyGluLysGlnArgIleGlyMetAlaArgMetPheTyrHisArgProLysTyrAlaLeuLeuAspGluCysThrSerAlaValSerIleAspValGluGlyLysIlePheGlnAlaAlaLysAspAlaGlyIleAlaLeuLeuSerIleThrHisArgProSerLeuTrpLysTyrHisThrHisLeuLeuGlnPheAspGlyGluGlyGlyTrpLysPheGluLysLeuAspSerAlaAlaArgLeuSerLeuThrGluGluLysGlnArgLeuGluGlnGlnLeuAlaGlyIleProLysMetGlnArgArgLeuGlnGluLeuCysGlnIleLeuGlyGluAlaValAlaProAlaHisValProAlaProSerProGlnGlyProGlyGlyLeuGlnGlyAlaSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.529C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.529C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Gln177Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Gln177Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 928,
          "referenceAllele": "C",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.5:c.529C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Gln177Ter",
        "hgvsWellDefined": "ENSP00000218104.3:p.Gln178_Thr745delinsThrTyrTyrArgValSerAsnMetAspGlyArgLeuArgAsnProAspGlnSerLeuThrGluAspValValAlaPheAlaAlaSerValAlaHisLeuTyrSerAsnLeuThrLysProLeuLeuAspValAlaValThrSerTyrThrLeuLeuArgAlaAlaArgSerArgGlyAlaGlyThrAlaTrpProSerAlaIleAlaGlyLeuValValPheLeuThrAlaAsnValLeuArgAlaPheSerProLysPheGlyGluLeuValAlaGluGluAlaArgArgLysGlyGluLeuArgTyrMetHisSerArgValValAlaAsnSerGluGluIleAlaPheTyrGlyGlyHisGluValGluLeuAlaLeuLeuGlnArgSerTyrGlnAspLeuAlaSerGlnIleAsnLeuIleLeuLeuGluArgLeuTrpTyrValMetLeuGluGlnPheLeuMetLysTyrValTrpSerAlaSerGlyLeuLeuMetValAlaValProIleIleThrAlaThrGlyTyrSerGluSerAspAlaGluAlaValLysLysAlaAlaLeuGluLysLysGluGluGluLeuValSerGluArgThrGluAlaPheThrIleAlaArgAsnLeuLeuThrAlaAlaAlaAspAlaIleGluArgIleMetSerSerTyrLysGluValThrGluLeuAlaGlyTyrThrAlaArgValHisGluMetPheGlnValPheGluAspValGlnArgCysHisPheLysArgProArgGluLeuGluAspAlaGlnAlaGlySerGlyThrIleGlyArgSerGlyValArgValGluGlyProLeuLysIleArgGlyGlnValValAspValGluGlnGlyIleIleCysGluAsnIleProIleValThrProSerGlyGluValValValAlaSerLeuAsnIleArgValGluGluGlyMetHisLeuLeuIleThrGlyProAsnGlyCysGlyLysSerSerLeuPheArgIleLeuGlyGlyLeuTrpProThrTyrGlyGlyValLeuTyrLysProProProGlnArgMetPheTyrIleProGlnArgProTyrMetSerValGlySerLeuArgAspGlnValIleTyrProAspSerValGluAspMetGlnArgLysGlyTyrSerGluGlnAspLeuGluAlaIleLeuAspValValHisLeuHisHisIleLeuGlnArgGluGlyGlyTrpGluAlaMetCysAspTrpLysAspValLeuSerGlyGlyGluLysGlnArgIleGlyMetAlaArgMetPheTyrHisArgProLysTyrAlaLeuLeuAspGluCysThrSerAlaValSerIleAspValGluGlyLysIlePheGlnAlaAlaLysAspAlaGlyIleAlaLeuLeuSerIleThrHisArgProSerLeuTrpLysTyrHisThrHisLeuLeuGlnPheAspGlyGluGlyGlyTrpLysPheGluLysLeuAspSerAlaAlaArgLeuSerLeuThrGluGluLysGlnArgLeuGluGlnGlnLeuAlaGlyIleProLysMetGlnArgArgLeuGlnGluLeuCysGlnIleLeuGlyGluAlaValAlaProAlaHisValProAlaProSerProGlnGlyProGlyGlyLeuGlnGlyAlaSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645444211",
      "coordinates": [
        {
          "allele": "T",
          "end": 928,
          "referenceAllele": "C",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.3:c.529C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Gln177Ter",
        "hgvsWellDefined": "NP_000024.2:p.Gln178_Thr745delinsThrTyrTyrArgValSerAsnMetAspGlyArgLeuArgAsnProAspGlnSerLeuThrGluAspValValAlaPheAlaAlaSerValAlaHisLeuTyrSerAsnLeuThrLysProLeuLeuAspValAlaValThrSerTyrThrLeuLeuArgAlaAlaArgSerArgGlyAlaGlyThrAlaTrpProSerAlaIleAlaGlyLeuValValPheLeuThrAlaAsnValLeuArgAlaPheSerProLysPheGlyGluLeuValAlaGluGluAlaArgArgLysGlyGluLeuArgTyrMetHisSerArgValValAlaAsnSerGluGluIleAlaPheTyrGlyGlyHisGluValGluLeuAlaLeuLeuGlnArgSerTyrGlnAspLeuAlaSerGlnIleAsnLeuIleLeuLeuGluArgLeuTrpTyrValMetLeuGluGlnPheLeuMetLysTyrValTrpSerAlaSerGlyLeuLeuMetValAlaValProIleIleThrAlaThrGlyTyrSerGluSerAspAlaGluAlaValLysLysAlaAlaLeuGluLysLysGluGluGluLeuValSerGluArgThrGluAlaPheThrIleAlaArgAsnLeuLeuThrAlaAlaAlaAspAlaIleGluArgIleMetSerSerTyrLysGluValThrGluLeuAlaGlyTyrThrAlaArgValHisGluMetPheGlnValPheGluAspValGlnArgCysHisPheLysArgProArgGluLeuGluAspAlaGlnAlaGlySerGlyThrIleGlyArgSerGlyValArgValGluGlyProLeuLysIleArgGlyGlnValValAspValGluGlnGlyIleIleCysGluAsnIleProIleValThrProSerGlyGluValValValAlaSerLeuAsnIleArgValGluGluGlyMetHisLeuLeuIleThrGlyProAsnGlyCysGlyLysSerSerLeuPheArgIleLeuGlyGlyLeuTrpProThrTyrGlyGlyValLeuTyrLysProProProGlnArgMetPheTyrIleProGlnArgProTyrMetSerValGlySerLeuArgAspGlnValIleTyrProAspSerValGluAspMetGlnArgLysGlyTyrSerGluGlnAspLeuGluAlaIleLeuAspValValHisLeuHisHisIleLeuGlnArgGluGlyGlyTrpGluAlaMetCysAspTrpLysAspValLeuSerGlyGlyGluLysGlnArgIleGlyMetAlaArgMetPheTyrHisArgProLysTyrAlaLeuLeuAspGluCysThrSerAlaValSerIleAspValGluGlyLysIlePheGlnAlaAlaLysAspAlaGlyIleAlaLeuLeuSerIleThrHisArgProSerLeuTrpLysTyrHisThrHisLeuLeuGlnPheAspGlyGluGlyGlyTrpLysPheGluLysLeuAspSerAlaAlaArgLeuSerLeuThrGluGluLysGlnArgLeuGluGlnGlnLeuAlaGlyIleProLysMetGlnArgArgLeuGlnGluLeuCysGlnIleLeuGlyGluAlaValAlaProAlaHisValProAlaProSerProGlnGlyProGlyGlyLeuGlnGlyAlaSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.1:n.945C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.2:n.945C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645444211",
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "C",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.4:c.529C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Gln177Ter",
        "hgvsWellDefined": "NP_000024.2:p.Gln178_Thr745delinsThrTyrTyrArgValSerAsnMetAspGlyArgLeuArgAsnProAspGlnSerLeuThrGluAspValValAlaPheAlaAlaSerValAlaHisLeuTyrSerAsnLeuThrLysProLeuLeuAspValAlaValThrSerTyrThrLeuLeuArgAlaAlaArgSerArgGlyAlaGlyThrAlaTrpProSerAlaIleAlaGlyLeuValValPheLeuThrAlaAsnValLeuArgAlaPheSerProLysPheGlyGluLeuValAlaGluGluAlaArgArgLysGlyGluLeuArgTyrMetHisSerArgValValAlaAsnSerGluGluIleAlaPheTyrGlyGlyHisGluValGluLeuAlaLeuLeuGlnArgSerTyrGlnAspLeuAlaSerGlnIleAsnLeuIleLeuLeuGluArgLeuTrpTyrValMetLeuGluGlnPheLeuMetLysTyrValTrpSerAlaSerGlyLeuLeuMetValAlaValProIleIleThrAlaThrGlyTyrSerGluSerAspAlaGluAlaValLysLysAlaAlaLeuGluLysLysGluGluGluLeuValSerGluArgThrGluAlaPheThrIleAlaArgAsnLeuLeuThrAlaAlaAlaAspAlaIleGluArgIleMetSerSerTyrLysGluValThrGluLeuAlaGlyTyrThrAlaArgValHisGluMetPheGlnValPheGluAspValGlnArgCysHisPheLysArgProArgGluLeuGluAspAlaGlnAlaGlySerGlyThrIleGlyArgSerGlyValArgValGluGlyProLeuLysIleArgGlyGlnValValAspValGluGlnGlyIleIleCysGluAsnIleProIleValThrProSerGlyGluValValValAlaSerLeuAsnIleArgValGluGluGlyMetHisLeuLeuIleThrGlyProAsnGlyCysGlyLysSerSerLeuPheArgIleLeuGlyGlyLeuTrpProThrTyrGlyGlyValLeuTyrLysProProProGlnArgMetPheTyrIleProGlnArgProTyrMetSerValGlySerLeuArgAspGlnValIleTyrProAspSerValGluAspMetGlnArgLysGlyTyrSerGluGlnAspLeuGluAlaIleLeuAspValValHisLeuHisHisIleLeuGlnArgGluGlyGlyTrpGluAlaMetCysAspTrpLysAspValLeuSerGlyGlyGluLysGlnArgIleGlyMetAlaArgMetPheTyrHisArgProLysTyrAlaLeuLeuAspGluCysThrSerAlaValSerIleAspValGluGlyLysIlePheGlnAlaAlaLysAspAlaGlyIleAlaLeuLeuSerIleThrHisArgProSerLeuTrpLysTyrHisThrHisLeuLeuGlnPheAspGlyGluGlyGlyTrpLysPheGluLysLeuAspSerAlaAlaArgLeuSerLeuThrGluGluLysGlnArgLeuGluGlnGlnLeuAlaGlyIleProLysMetGlnArgArgLeuGlnGluLeuCysGlnIleLeuGlyGluAlaValAlaProAlaHisValProAlaProSerProGlnGlyProGlyGlyLeuGlnGlyAlaSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.529C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.529C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Gln177Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Gln177Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}