{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415113133",
  "communityStandardTitle": [
    "NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=575357[alleleid]",
        "alleleId": 575357,
        "preferredName": "NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/566124",
        "RCV": [
          "RCV000685857",
          "RCV002267015",
          "RCV003420213",
          "RCV003994077"
        ],
        "variationId": 566124
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153006140G>A?assembly=hg19",
        "id": "chrX:g.153006140G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153740686G>A?assembly=hg38",
        "id": "chrX:g.153740686G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1569541120",
        "rs": 1569541120
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153740686-G-A?dataset=gnomad_r3",
        "id": "X-153740686-G-A",
        "variant": "X:153740686 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153740686-G-A?dataset=gnomad_r4",
        "id": "X-153740686-G-A",
        "variant": "X:153740686 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153740686,
          "referenceAllele": "G",
          "start": 153740685
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153740686G>A",
        "CM000685.2:g.153740686G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153006140,
          "referenceAllele": "G",
          "start": 153006139
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153006140G>A",
        "CM000685.1:g.153006140G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 152659334,
          "referenceAllele": "G",
          "start": 152659333
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152659334G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20819,
          "referenceAllele": "G",
          "start": 20818
        }
      ],
      "hgvs": [
        "NG_009022.2:g.20819G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001385"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2158,
          "referenceAllele": "G",
          "start": 2157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.6:c.1747G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Val583Met",
        "hgvsWellDefined": "ENSP00000218104.3:p.Val583Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.1747G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.1747G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Val583Met"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Val583Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2146,
          "referenceAllele": "G",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.5:c.1747G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Val583Met",
        "hgvsWellDefined": "ENSP00000218104.3:p.Val583Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891844786",
      "coordinates": [
        {
          "allele": "A",
          "end": 2146,
          "referenceAllele": "G",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.3:c.1747G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Val583Met",
        "hgvsWellDefined": "NP_000024.2:p.Val583Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "G",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.1:n.2219G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "G",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.2:n.2219G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891844786",
      "coordinates": [
        {
          "allele": "A",
          "end": 2158,
          "referenceAllele": "G",
          "start": 2157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.4:c.1747G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Val583Met",
        "hgvsWellDefined": "NP_000024.2:p.Val583Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.1747G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.1747G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Val583Met"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Val583Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}