{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415098799",
  "communityStandardTitle": [
    "NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=929600[alleleid]",
        "alleleId": 929600,
        "preferredName": "NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/951267",
        "RCV": [
          "RCV001223136",
          "RCV002322079",
          "RCV003132290"
        ],
        "variationId": 951267
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.152991132G>A?assembly=hg19",
        "id": "chrX:g.152991132G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153725677G>A?assembly=hg38",
        "id": "chrX:g.153725677G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2091706547",
        "rs": 2091706547
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153725677,
          "referenceAllele": "G",
          "start": 153725676
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153725677G>A",
        "CM000685.2:g.153725677G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 152991132,
          "referenceAllele": "G",
          "start": 152991131
        }
      ],
      "hgvs": [
        "NC_000023.10:g.152991132G>A",
        "CM000685.1:g.152991132G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 152644326,
          "referenceAllele": "G",
          "start": 152644325
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152644326G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5810,
          "referenceAllele": "G",
          "start": 5809
        }
      ],
      "hgvs": [
        "NG_009022.2:g.5810G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4070,
          "referenceAllele": "C",
          "start": 4069
        }
      ],
      "hgvs": [
        "NG_023231.1:g.4070C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003724"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 822,
          "referenceAllele": "G",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.6:c.411G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Trp137Ter",
        "hgvsWellDefined": "ENSP00000218104.3:p.Trp137_Thr745delinsLeuLeuIleAlaLeuProAlaThrPheValAsnSerAlaIleArgTyrLeuGluGlyGlnLeuAlaLeuSerPheArgSerArgLeuValAlaHisAlaTyrArgLeuTyrPheSerGlnGlnThrTyrTyrArgValSerAsnMetAspGlyArgLeuArgAsnProAspGlnSerLeuThrGluAspValValAlaPheAlaAlaSerValAlaHisLeuTyrSerAsnLeuThrLysProLeuLeuAspValAlaValThrSerTyrThrLeuLeuArgAlaAlaArgSerArgGlyAlaGlyThrAlaTrpProSerAlaIleAlaGlyLeuValValPheLeuThrAlaAsnValLeuArgAlaPheSerProLysPheGlyGluLeuValAlaGluGluAlaArgArgLysGlyGluLeuArgTyrMetHisSerArgValValAlaAsnSerGluGluIleAlaPheTyrGlyGlyHisGluValGluLeuAlaLeuLeuGlnArgSerTyrGlnAspLeuAlaSerGlnIleAsnLeuIleLeuLeuGluArgLeuTrpTyrValMetLeuGluGlnPheLeuMetLysTyrValTrpSerAlaSerGlyLeuLeuMetValAlaValProIleIleThrAlaThrGlyTyrSerGluSerAspAlaGluAlaValLysLysAlaAlaLeuGluLysLysGluGluGluLeuValSerGluArgThrGluAlaPheThrIleAlaArgAsnLeuLeuThrAlaAlaAlaAspAlaIleGluArgIleMetSerSerTyrLysGluValThrGluLeuAlaGlyTyrThrAlaArgValHisGluMetPheGlnValPheGluAspValGlnArgCysHisPheLysArgProArgGluLeuGluAspAlaGlnAlaGlySerGlyThrIleGlyArgSerGlyValArgValGluGlyProLeuLysIleArgGlyGlnValValAspValGluGlnGlyIleIleCysGluAsnIleProIleValThrProSerGlyGluValValValAlaSerLeuAsnIleArgValGluGluGlyMetHisLeuLeuIleThrGlyProAsnGlyCysGlyLysSerSerLeuPheArgIleLeuGlyGlyLeuTrpProThrTyrGlyGlyValLeuTyrLysProProProGlnArgMetPheTyrIleProGlnArgProTyrMetSerValGlySerLeuArgAspGlnValIleTyrProAspSerValGluAspMetGlnArgLysGlyTyrSerGluGlnAspLeuGluAlaIleLeuAspValValHisLeuHisHisIleLeuGlnArgGluGlyGlyTrpGluAlaMetCysAspTrpLysAspValLeuSerGlyGlyGluLysGlnArgIleGlyMetAlaArgMetPheTyrHisArgProLysTyrAlaLeuLeuAspGluCysThrSerAlaValSerIleAspValGluGlyLysIlePheGlnAlaAlaLysAspAlaGlyIleAlaLeuLeuSerIleThrHisArgProSerLeuTrpLysTyrHisThrHisLeuLeuGlnPheAspGlyGluGlyGlyTrpLysPheGluLysLeuAspSerAlaAlaArgLeuSerLeuThrGluGluLysGlnArgLeuGluGlnGlnLeuAlaGlyIleProLysMetGlnArgArgLeuGlnGluLeuCysGlnIleLeuGlyGluAlaValAlaProAlaHisValProAlaProSerProGlnGlyProGlyGlyLeuGlnGlyAlaSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.411G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.411G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Trp137Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Trp137Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.5:c.411G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Trp137Ter",
        "hgvsWellDefined": "ENSP00000218104.3:p.Trp137_Thr745delinsLeuLeuIleAlaLeuProAlaThrPheValAsnSerAlaIleArgTyrLeuGluGlyGlnLeuAlaLeuSerPheArgSerArgLeuValAlaHisAlaTyrArgLeuTyrPheSerGlnGlnThrTyrTyrArgValSerAsnMetAspGlyArgLeuArgAsnProAspGlnSerLeuThrGluAspValValAlaPheAlaAlaSerValAlaHisLeuTyrSerAsnLeuThrLysProLeuLeuAspValAlaValThrSerTyrThrLeuLeuArgAlaAlaArgSerArgGlyAlaGlyThrAlaTrpProSerAlaIleAlaGlyLeuValValPheLeuThrAlaAsnValLeuArgAlaPheSerProLysPheGlyGluLeuValAlaGluGluAlaArgArgLysGlyGluLeuArgTyrMetHisSerArgValValAlaAsnSerGluGluIleAlaPheTyrGlyGlyHisGluValGluLeuAlaLeuLeuGlnArgSerTyrGlnAspLeuAlaSerGlnIleAsnLeuIleLeuLeuGluArgLeuTrpTyrValMetLeuGluGlnPheLeuMetLysTyrValTrpSerAlaSerGlyLeuLeuMetValAlaValProIleIleThrAlaThrGlyTyrSerGluSerAspAlaGluAlaValLysLysAlaAlaLeuGluLysLysGluGluGluLeuValSerGluArgThrGluAlaPheThrIleAlaArgAsnLeuLeuThrAlaAlaAlaAspAlaIleGluArgIleMetSerSerTyrLysGluValThrGluLeuAlaGlyTyrThrAlaArgValHisGluMetPheGlnValPheGluAspValGlnArgCysHisPheLysArgProArgGluLeuGluAspAlaGlnAlaGlySerGlyThrIleGlyArgSerGlyValArgValGluGlyProLeuLysIleArgGlyGlnValValAspValGluGlnGlyIleIleCysGluAsnIleProIleValThrProSerGlyGluValValValAlaSerLeuAsnIleArgValGluGluGlyMetHisLeuLeuIleThrGlyProAsnGlyCysGlyLysSerSerLeuPheArgIleLeuGlyGlyLeuTrpProThrTyrGlyGlyValLeuTyrLysProProProGlnArgMetPheTyrIleProGlnArgProTyrMetSerValGlySerLeuArgAspGlnValIleTyrProAspSerValGluAspMetGlnArgLysGlyTyrSerGluGlnAspLeuGluAlaIleLeuAspValValHisLeuHisHisIleLeuGlnArgGluGlyGlyTrpGluAlaMetCysAspTrpLysAspValLeuSerGlyGlyGluLysGlnArgIleGlyMetAlaArgMetPheTyrHisArgProLysTyrAlaLeuLeuAspGluCysThrSerAlaValSerIleAspValGluGlyLysIlePheGlnAlaAlaLysAspAlaGlyIleAlaLeuLeuSerIleThrHisArgProSerLeuTrpLysTyrHisThrHisLeuLeuGlnPheAspGlyGluGlyGlyTrpLysPheGluLysLeuAspSerAlaAlaArgLeuSerLeuThrGluGluLysGlnArgLeuGluGlnGlnLeuAlaGlyIleProLysMetGlnArgArgLeuGlnGluLeuCysGlnIleLeuGlyGluAlaValAlaProAlaHisValProAlaProSerProGlnGlyProGlyGlyLeuGlnGlyAlaSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139669043",
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.3:c.411G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Trp137Ter",
        "hgvsWellDefined": "NP_000024.2:p.Trp137_Thr745delinsLeuLeuIleAlaLeuProAlaThrPheValAsnSerAlaIleArgTyrLeuGluGlyGlnLeuAlaLeuSerPheArgSerArgLeuValAlaHisAlaTyrArgLeuTyrPheSerGlnGlnThrTyrTyrArgValSerAsnMetAspGlyArgLeuArgAsnProAspGlnSerLeuThrGluAspValValAlaPheAlaAlaSerValAlaHisLeuTyrSerAsnLeuThrLysProLeuLeuAspValAlaValThrSerTyrThrLeuLeuArgAlaAlaArgSerArgGlyAlaGlyThrAlaTrpProSerAlaIleAlaGlyLeuValValPheLeuThrAlaAsnValLeuArgAlaPheSerProLysPheGlyGluLeuValAlaGluGluAlaArgArgLysGlyGluLeuArgTyrMetHisSerArgValValAlaAsnSerGluGluIleAlaPheTyrGlyGlyHisGluValGluLeuAlaLeuLeuGlnArgSerTyrGlnAspLeuAlaSerGlnIleAsnLeuIleLeuLeuGluArgLeuTrpTyrValMetLeuGluGlnPheLeuMetLysTyrValTrpSerAlaSerGlyLeuLeuMetValAlaValProIleIleThrAlaThrGlyTyrSerGluSerAspAlaGluAlaValLysLysAlaAlaLeuGluLysLysGluGluGluLeuValSerGluArgThrGluAlaPheThrIleAlaArgAsnLeuLeuThrAlaAlaAlaAspAlaIleGluArgIleMetSerSerTyrLysGluValThrGluLeuAlaGlyTyrThrAlaArgValHisGluMetPheGlnValPheGluAspValGlnArgCysHisPheLysArgProArgGluLeuGluAspAlaGlnAlaGlySerGlyThrIleGlyArgSerGlyValArgValGluGlyProLeuLysIleArgGlyGlnValValAspValGluGlnGlyIleIleCysGluAsnIleProIleValThrProSerGlyGluValValValAlaSerLeuAsnIleArgValGluGluGlyMetHisLeuLeuIleThrGlyProAsnGlyCysGlyLysSerSerLeuPheArgIleLeuGlyGlyLeuTrpProThrTyrGlyGlyValLeuTyrLysProProProGlnArgMetPheTyrIleProGlnArgProTyrMetSerValGlySerLeuArgAspGlnValIleTyrProAspSerValGluAspMetGlnArgLysGlyTyrSerGluGlnAspLeuGluAlaIleLeuAspValValHisLeuHisHisIleLeuGlnArgGluGlyGlyTrpGluAlaMetCysAspTrpLysAspValLeuSerGlyGlyGluLysGlnArgIleGlyMetAlaArgMetPheTyrHisArgProLysTyrAlaLeuLeuAspGluCysThrSerAlaValSerIleAspValGluGlyLysIlePheGlnAlaAlaLysAspAlaGlyIleAlaLeuLeuSerIleThrHisArgProSerLeuTrpLysTyrHisThrHisLeuLeuGlnPheAspGlyGluGlyGlyTrpLysPheGluLysLeuAspSerAlaAlaArgLeuSerLeuThrGluGluLysGlnArgLeuGluGlnGlnLeuAlaGlyIleProLysMetGlnArgArgLeuGlnGluLeuCysGlnIleLeuGlyGluAlaValAlaProAlaHisValProAlaProSerProGlnGlyProGlyGlyLeuGlnGlyAlaSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 827,
          "referenceAllele": "G",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.1:n.827G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 827,
          "referenceAllele": "G",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.2:n.827G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139669043",
      "coordinates": [
        {
          "allele": "A",
          "end": 822,
          "referenceAllele": "G",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.4:c.411G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Trp137Ter",
        "hgvsWellDefined": "NP_000024.2:p.Trp137_Thr745delinsLeuLeuIleAlaLeuProAlaThrPheValAsnSerAlaIleArgTyrLeuGluGlyGlnLeuAlaLeuSerPheArgSerArgLeuValAlaHisAlaTyrArgLeuTyrPheSerGlnGlnThrTyrTyrArgValSerAsnMetAspGlyArgLeuArgAsnProAspGlnSerLeuThrGluAspValValAlaPheAlaAlaSerValAlaHisLeuTyrSerAsnLeuThrLysProLeuLeuAspValAlaValThrSerTyrThrLeuLeuArgAlaAlaArgSerArgGlyAlaGlyThrAlaTrpProSerAlaIleAlaGlyLeuValValPheLeuThrAlaAsnValLeuArgAlaPheSerProLysPheGlyGluLeuValAlaGluGluAlaArgArgLysGlyGluLeuArgTyrMetHisSerArgValValAlaAsnSerGluGluIleAlaPheTyrGlyGlyHisGluValGluLeuAlaLeuLeuGlnArgSerTyrGlnAspLeuAlaSerGlnIleAsnLeuIleLeuLeuGluArgLeuTrpTyrValMetLeuGluGlnPheLeuMetLysTyrValTrpSerAlaSerGlyLeuLeuMetValAlaValProIleIleThrAlaThrGlyTyrSerGluSerAspAlaGluAlaValLysLysAlaAlaLeuGluLysLysGluGluGluLeuValSerGluArgThrGluAlaPheThrIleAlaArgAsnLeuLeuThrAlaAlaAlaAspAlaIleGluArgIleMetSerSerTyrLysGluValThrGluLeuAlaGlyTyrThrAlaArgValHisGluMetPheGlnValPheGluAspValGlnArgCysHisPheLysArgProArgGluLeuGluAspAlaGlnAlaGlySerGlyThrIleGlyArgSerGlyValArgValGluGlyProLeuLysIleArgGlyGlnValValAspValGluGlnGlyIleIleCysGluAsnIleProIleValThrProSerGlyGluValValValAlaSerLeuAsnIleArgValGluGluGlyMetHisLeuLeuIleThrGlyProAsnGlyCysGlyLysSerSerLeuPheArgIleLeuGlyGlyLeuTrpProThrTyrGlyGlyValLeuTyrLysProProProGlnArgMetPheTyrIleProGlnArgProTyrMetSerValGlySerLeuArgAspGlnValIleTyrProAspSerValGluAspMetGlnArgLysGlyTyrSerGluGlnAspLeuGluAlaIleLeuAspValValHisLeuHisHisIleLeuGlnArgGluGlyGlyTrpGluAlaMetCysAspTrpLysAspValLeuSerGlyGlyGluLysGlnArgIleGlyMetAlaArgMetPheTyrHisArgProLysTyrAlaLeuLeuAspGluCysThrSerAlaValSerIleAspValGluGlyLysIlePheGlnAlaAlaLysAspAlaGlyIleAlaLeuLeuSerIleThrHisArgProSerLeuTrpLysTyrHisThrHisLeuLeuGlnPheAspGlyGluGlyGlyTrpLysPheGluLysLeuAspSerAlaAlaArgLeuSerLeuThrGluGluLysGlnArgLeuGluGlnGlnLeuAlaGlyIleProLysMetGlnArgArgLeuGlnGluLeuCysGlnIleLeuGlyGluAlaValAlaProAlaHisValProAlaProSerProGlnGlyProGlyGlyLeuGlnGlyAlaSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.411G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.411G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Trp137Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Trp137Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}