{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2466455174",
  "communityStandardTitle": [
    "NM_000033.4(ABCD1):c.1390C= (p.Arg464=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/128624221",
        "rs": 128624221
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153736510,
          "referenceAllele": "C",
          "start": 153736509
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153736510C=",
        "CM000685.2:g.153736510C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153001964,
          "referenceAllele": "C",
          "start": 153001963
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153001964C=",
        "CM000685.1:g.153001964C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 152655158,
          "referenceAllele": "C",
          "start": 152655157
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152655158C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16643,
          "referenceAllele": "C",
          "start": 16642
        }
      ],
      "hgvs": [
        "NG_009022.2:g.16643C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001385"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1801,
          "referenceAllele": "C",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.6:c.1390C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Arg464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.1390C="
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.1390C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Arg464="
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Arg464="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1789,
          "referenceAllele": "C",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.5:c.1390C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Arg464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 393,
          "referenceAllele": "C",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000443684.2:n.393C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS297459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063195793",
      "coordinates": [
        {
          "allele": "C",
          "end": 1789,
          "referenceAllele": "C",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.3:c.1390C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Arg464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006098"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1806,
          "referenceAllele": "C",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.1:n.1806C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1806,
          "referenceAllele": "C",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.2:n.1806C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063195793",
      "coordinates": [
        {
          "allele": "C",
          "end": 1801,
          "referenceAllele": "C",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.4:c.1390C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Arg464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.1390C="
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.1390C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Arg464="
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Arg464="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}