{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415098421",
  "communityStandardTitle": [
    "NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4838040",
        "active": true,
        "id": "COSM4838040"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2670981[alleleid]",
        "alleleId": 2670981,
        "preferredName": "NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2506019",
        "RCV": [
          "RCV003236250"
        ],
        "variationId": 2506019
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.152990941C>T?assembly=hg19",
        "id": "chrX:g.152990941C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153725486C>T?assembly=hg38",
        "id": "chrX:g.153725486C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2522264062",
        "rs": 2522264062
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153725486-C-T?dataset=gnomad_r4",
        "id": "X-153725486-C-T",
        "variant": "X:153725486 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153725486,
          "referenceAllele": "C",
          "start": 153725485
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153725486C>T",
        "CM000685.2:g.153725486C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 152990941,
          "referenceAllele": "C",
          "start": 152990940
        }
      ],
      "hgvs": [
        "NC_000023.10:g.152990941C>T",
        "CM000685.1:g.152990941C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 152644135,
          "referenceAllele": "C",
          "start": 152644134
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152644135C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5619,
          "referenceAllele": "C",
          "start": 5618
        }
      ],
      "hgvs": [
        "NG_009022.2:g.5619C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4261,
          "referenceAllele": "G",
          "start": 4260
        }
      ],
      "hgvs": [
        "NG_023231.1:g.4261G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003724"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 631,
          "referenceAllele": "C",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.6:c.220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Arg74Trp",
        "hgvsWellDefined": "ENSP00000218104.3:p.Arg74Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.220C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.220C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Arg74Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Arg74Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.5:c.220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Arg74Trp",
        "hgvsWellDefined": "ENSP00000218104.3:p.Arg74Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809444",
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.3:c.220C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Arg74Trp",
        "hgvsWellDefined": "NP_000024.2:p.Arg74Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "referenceAllele": "C",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.1:n.636C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "referenceAllele": "C",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.2:n.636C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809444",
      "coordinates": [
        {
          "allele": "T",
          "end": 631,
          "referenceAllele": "C",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.4:c.220C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Arg74Trp",
        "hgvsWellDefined": "NP_000024.2:p.Arg74Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.220C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.220C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Arg74Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Arg74Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}