{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415100492",
  "communityStandardTitle": [
    "NM_000033.4(ABCD1):c.901-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1203356[alleleid]",
        "alleleId": 1203356,
        "preferredName": "NM_000033.4(ABCD1):c.901-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1213362",
        "RCV": [
          "RCV001591534",
          "RCV002221634"
        ],
        "variationId": 1213362
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.152994686G>A?assembly=hg19",
        "id": "chrX:g.152994686G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153729231G>A?assembly=hg38",
        "id": "chrX:g.153729231G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2148391908",
        "rs": 2148391908
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153729231,
          "referenceAllele": "G",
          "start": 153729230
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153729231G>A",
        "CM000685.2:g.153729231G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 152994686,
          "referenceAllele": "G",
          "start": 152994685
        }
      ],
      "hgvs": [
        "NC_000023.10:g.152994686G>A",
        "CM000685.1:g.152994686G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 152647880,
          "referenceAllele": "G",
          "start": 152647879
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152647880G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9364,
          "referenceAllele": "G",
          "start": 9363
        }
      ],
      "hgvs": [
        "NG_009022.2:g.9364G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "referenceAllele": "C",
          "start": 515
        }
      ],
      "hgvs": [
        "NG_023231.1:g.516C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003724"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1311,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1311,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.6:c.901-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:n.901-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.901-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.901-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:n.901-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:n.901-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1299,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1299,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.5:c.901-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:n.901-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 350,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000370129.4:c.346-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359147.3:n.346-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1299,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1299,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.3:c.901-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:n.901-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1316,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1316,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.1:n.1317-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1316,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1316,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.2:n.1317-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1311,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1311,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.4:c.901-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:n.901-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.901-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.901-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:n.901-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:n.901-1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}