{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10549967",
  "communityStandardTitle": [
    "NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=649778[alleleid]",
        "alleleId": 649778,
        "preferredName": "NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/644432",
        "RCV": [
          "RCV000798341",
          "RCV001575604"
        ],
        "variationId": 644432
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-152991229-G-A",
        "id": "X-152991229-G-A",
        "variant": "X:152991229 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.152991229G>A?assembly=hg19",
        "id": "chrX:g.152991229G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153725774G>A?assembly=hg38",
        "id": "chrX:g.153725774G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782293513",
        "rs": 782293513
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-152991229-G-A?dataset=gnomad_r2_1",
        "id": "X-152991229-G-A",
        "variant": "X:152991229 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153725774-G-A?dataset=gnomad_r3",
        "id": "X-153725774-G-A",
        "variant": "X:153725774 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153725774-G-A?dataset=gnomad_r4",
        "id": "X-153725774-G-A",
        "variant": "X:153725774 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153725774,
          "referenceAllele": "G",
          "start": 153725773
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153725774G>A",
        "CM000685.2:g.153725774G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 152991229,
          "referenceAllele": "G",
          "start": 152991228
        }
      ],
      "hgvs": [
        "NC_000023.10:g.152991229G>A",
        "CM000685.1:g.152991229G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 152644423,
          "referenceAllele": "G",
          "start": 152644422
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152644423G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5907,
          "referenceAllele": "G",
          "start": 5906
        }
      ],
      "hgvs": [
        "NG_009022.2:g.5907G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3973,
          "referenceAllele": "C",
          "start": 3972
        }
      ],
      "hgvs": [
        "NG_023231.1:g.3973C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003724"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 919,
          "referenceAllele": "G",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.6:c.508G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Ala170Thr",
        "hgvsWellDefined": "ENSP00000218104.3:p.Ala170Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.508G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.508G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Ala170Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Ala170Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.5:c.508G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Ala170Thr",
        "hgvsWellDefined": "ENSP00000218104.3:p.Ala170Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915954776",
      "coordinates": [
        {
          "allele": "A",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.3:c.508G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Ala170Thr",
        "hgvsWellDefined": "NP_000024.2:p.Ala170Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.1:n.924G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.2:n.924G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915954776",
      "coordinates": [
        {
          "allele": "A",
          "end": 919,
          "referenceAllele": "G",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.4:c.508G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Ala170Thr",
        "hgvsWellDefined": "NP_000024.2:p.Ala170Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.508G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.508G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Ala170Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Ala170Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}