{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415118560",
  "communityStandardTitle": [
    "NM_000033.4(ABCD1):c.2051T>C (p.Leu684Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1455811[alleleid]",
        "alleleId": 1455811,
        "preferredName": "NM_000033.4(ABCD1):c.2051T>C (p.Leu684Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1512177",
        "RCV": [
          "RCV002017025"
        ],
        "variationId": 1512177
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153009002T>C?assembly=hg19",
        "id": "chrX:g.153009002T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153743548T>C?assembly=hg38",
        "id": "chrX:g.153743548T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2091775375",
        "rs": 2091775375
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153743548,
          "referenceAllele": "T",
          "start": 153743547
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153743548T>C",
        "CM000685.2:g.153743548T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153009002,
          "referenceAllele": "T",
          "start": 153009001
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153009002T>C",
        "CM000685.1:g.153009002T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 152662196,
          "referenceAllele": "T",
          "start": 152662195
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152662196T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23681,
          "referenceAllele": "T",
          "start": 23680
        }
      ],
      "hgvs": [
        "NG_009022.2:g.23681T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001385"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2462,
          "referenceAllele": "T",
          "start": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.6:c.2051T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Leu684Pro",
        "hgvsWellDefined": "ENSP00000218104.3:p.Leu684Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.2051T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.2051T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Leu684Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Leu684Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2450,
          "referenceAllele": "T",
          "start": 2449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.5:c.2051T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Leu684Pro",
        "hgvsWellDefined": "ENSP00000218104.3:p.Leu684Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573159862",
      "coordinates": [
        {
          "allele": "C",
          "end": 2450,
          "referenceAllele": "T",
          "start": 2449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.3:c.2051T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Leu684Pro",
        "hgvsWellDefined": "NP_000024.2:p.Leu684Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006098"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2523,
          "referenceAllele": "T",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.1:n.2523T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2523,
          "referenceAllele": "T",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.2:n.2523T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573159862",
      "coordinates": [
        {
          "allele": "C",
          "end": 2462,
          "referenceAllele": "T",
          "start": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.4:c.2051T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Leu684Pro",
        "hgvsWellDefined": "NP_000024.2:p.Leu684Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.2051T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.2051T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Leu684Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Leu684Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}