{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415108803",
  "communityStandardTitle": [
    "NM_000033.4(ABCD1):c.1478T>C (p.Leu493Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2902071[alleleid]",
        "alleleId": 2902071,
        "preferredName": "NM_000033.4(ABCD1):c.1478T>C (p.Leu493Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2737415",
        "RCV": [
          "RCV003513720"
        ],
        "variationId": 2737415
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153002695T>C?assembly=hg19",
        "id": "chrX:g.153002695T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153737241T>C?assembly=hg38",
        "id": "chrX:g.153737241T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2522291808",
        "rs": 2522291808
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153737241,
          "referenceAllele": "T",
          "start": 153737240
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153737241T>C",
        "CM000685.2:g.153737241T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153002695,
          "referenceAllele": "T",
          "start": 153002694
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153002695T>C",
        "CM000685.1:g.153002695T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 152655889,
          "referenceAllele": "T",
          "start": 152655888
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152655889T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17374,
          "referenceAllele": "T",
          "start": 17373
        }
      ],
      "hgvs": [
        "NG_009022.2:g.17374T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001385"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1889,
          "referenceAllele": "T",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.6:c.1478T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Leu493Pro",
        "hgvsWellDefined": "ENSP00000218104.3:p.Leu493Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.1478T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.1478T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Leu493Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Leu493Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1877,
          "referenceAllele": "T",
          "start": 1876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.5:c.1478T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Leu493Pro",
        "hgvsWellDefined": "ENSP00000218104.3:p.Leu493Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "referenceAllele": "T",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000443684.2:n.481T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS297459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809654",
      "coordinates": [
        {
          "allele": "C",
          "end": 1877,
          "referenceAllele": "T",
          "start": 1876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.3:c.1478T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Leu493Pro",
        "hgvsWellDefined": "NP_000024.2:p.Leu493Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006098"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1950,
          "referenceAllele": "T",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.1:n.1950T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1950,
          "referenceAllele": "T",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.2:n.1950T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809654",
      "coordinates": [
        {
          "allele": "C",
          "end": 1889,
          "referenceAllele": "T",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.4:c.1478T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Leu493Pro",
        "hgvsWellDefined": "NP_000024.2:p.Leu493Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.1478T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.1478T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Leu493Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Leu493Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}