{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA146010",
  "communityStandardTitle": [
    "NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM1444600"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98694[alleleid]",
        "alleleId": 98694,
        "preferredName": "NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92787",
        "RCV": [
          "RCV000078574",
          "RCV000407233",
          "RCV000586703",
          "RCV001274620",
          "RCV001543723",
          "RCV001520392",
          "RCV001543724"
        ],
        "variationId": 92787
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-42932200-G-T",
        "id": "6-42932200-G-T",
        "variant": "6:42932200 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.42932200G>T?assembly=hg19",
        "id": "chr6:g.42932200G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.42964462G>T?assembly=hg38",
        "id": "chr6:g.42964462G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1129187",
        "rs": 1129187
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-42932200-G-T?dataset=gnomad_r2_1",
        "id": "6-42932200-G-T",
        "variant": "6:42932200 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-42964462-G-T?dataset=gnomad_r3",
        "id": "6-42964462-G-T",
        "variant": "6:42964462 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-42964462-G-T?dataset=gnomad_r4",
        "id": "6-42964462-G-T",
        "variant": "6:42964462 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 42964462,
          "referenceAllele": "G",
          "start": 42964461
        }
      ],
      "hgvs": [
        "NC_000006.12:g.42964462G>T",
        "CM000668.2:g.42964462G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 42932200,
          "referenceAllele": "G",
          "start": 42932199
        }
      ],
      "hgvs": [
        "NC_000006.11:g.42932200G>T",
        "CM000668.1:g.42932200G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43040178,
          "referenceAllele": "G",
          "start": 43040177
        }
      ],
      "hgvs": [
        "NC_000006.10:g.43040178G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19782,
          "referenceAllele": "C",
          "start": 19781
        }
      ],
      "hgvs": [
        "NG_008370.1:g.19782C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8701,
          "referenceAllele": "G",
          "start": 8700
        }
      ],
      "hgvs": [
        "NG_008396.1:g.8701G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001077"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2847,
          "referenceAllele": "C",
          "start": 2846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "ENST00000304611.13:c.2816C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303511.8:p.Pro939Gln",
        "hgvsWellDefined": "ENSP00000303511.8:p.Pro939Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745122",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304611.13:c.2816C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000287.4:c.2816C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303511.8:p.Pro939Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000278.3:p.Pro939Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2569,
          "referenceAllele": "C",
          "start": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "ENST00000244546.4:c.2569C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000244546.4:n.2569C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2886,
          "referenceAllele": "C",
          "start": 2885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "ENST00000304611.12:c.2816C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303511.8:p.Pro939Gln",
        "hgvsWellDefined": "ENSP00000303511.8:p.Pro939Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146011",
      "coordinates": [
        {
          "allele": "A",
          "end": 2909,
          "referenceAllele": "C",
          "start": 2908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NM_000287.3:c.2816C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000278.3:p.Pro939Gln",
        "hgvsWellDefined": "NP_000278.3:p.Pro939Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826954393",
      "coordinates": [
        {
          "allele": "A",
          "end": 2645,
          "referenceAllele": "C",
          "start": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NM_001316313.1:c.2552C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303242.1:p.Pro851Gln",
        "hgvsWellDefined": "NP_001303242.1:p.Pro851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2662,
          "referenceAllele": "C",
          "start": 2661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NR_133009.1:n.2662C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2825,
          "referenceAllele": "C",
          "start": 2824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "XM_011514661.1:c.2732C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512963.1:p.Pro911Gln",
        "hgvsWellDefined": "XP_011512963.1:p.Pro911Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3795,
          "referenceAllele": "C",
          "start": 3794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "XM_011514661.2:c.2732C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512963.1:p.Pro911Gln",
        "hgvsWellDefined": "XP_011512963.1:p.Pro911Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3778,
          "referenceAllele": "C",
          "start": 3777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "XR_001743466.2:n.3778C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146011",
      "coordinates": [
        {
          "allele": "A",
          "end": 2847,
          "referenceAllele": "C",
          "start": 2846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NM_000287.4:c.2816C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000278.3:p.Pro939Gln",
        "hgvsWellDefined": "NP_000278.3:p.Pro939Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662386",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304611.13:c.2816C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000287.4:c.2816C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303511.8:p.Pro939Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000278.3:p.Pro939Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826954393",
      "coordinates": [
        {
          "allele": "A",
          "end": 2583,
          "referenceAllele": "C",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NM_001316313.2:c.2552C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303242.1:p.Pro851Gln",
        "hgvsWellDefined": "NP_001303242.1:p.Pro851Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2600,
          "referenceAllele": "C",
          "start": 2599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NR_133009.2:n.2600C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703418"
    }
  ],
  "type": "nucleotide"
}