{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA245493",
  "communityStandardTitle": [
    "NM_002617.4(PEX10):c.611G>A (p.Arg204His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194547[alleleid]",
        "alleleId": 194547,
        "preferredName": "NM_002617.4(PEX10):c.611G>A (p.Arg204His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197386",
        "RCV": [
          "RCV000178399",
          "RCV000315166",
          "RCV001086346",
          "RCV001272161",
          "RCV003907615"
        ],
        "variationId": 197386
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-2338324-C-T",
        "id": "1-2338324-C-T",
        "variant": "1:2338324 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.2338324C>T?assembly=hg19",
        "id": "chr1:g.2338324C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.2406885C>T?assembly=hg38",
        "id": "chr1:g.2406885C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199934621",
        "rs": 199934621
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-2338324-C-T?dataset=gnomad_r2_1",
        "id": "1-2338324-C-T",
        "variant": "1:2338324 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-2406885-C-T?dataset=gnomad_r3",
        "id": "1-2406885-C-T",
        "variant": "1:2406885 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-2406885-C-T?dataset=gnomad_r4",
        "id": "1-2406885-C-T",
        "variant": "1:2406885 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 2406885,
          "referenceAllele": "C",
          "start": 2406884
        }
      ],
      "hgvs": [
        "NC_000001.11:g.2406885C>T",
        "CM000663.2:g.2406885C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 2338324,
          "referenceAllele": "C",
          "start": 2338323
        }
      ],
      "hgvs": [
        "NC_000001.10:g.2338324C>T",
        "CM000663.1:g.2338324C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 2328184,
          "referenceAllele": "C",
          "start": 2328183
        }
      ],
      "hgvs": [
        "NC_000001.9:g.2328184C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10687,
          "referenceAllele": "G",
          "start": 10686
        }
      ],
      "hgvs": [
        "NG_008342.1:g.10687G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20111,
          "referenceAllele": "C",
          "start": 20110
        }
      ],
      "hgvs": [
        "NG_016128.1:g.20111C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "ENST00000288774.8:c.671G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288774.3:p.Arg224His",
        "hgvsWellDefined": "ENSP00000288774.3:p.Arg224His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "ENST00000447513.7:c.611G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407922.2:p.Arg204His",
        "hgvsWellDefined": "ENSP00000407922.2:p.Arg204His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756131",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000447513.7:c.611G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002617.4:c.611G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000407922.2:p.Arg204His"
          },
          "RefSeq": {
            "hgvs": "NP_002608.1:p.Arg204His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "referenceAllele": "G",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "ENST00000650293.1:c.565G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "G",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "ENST00000288774.7:c.671G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288774.3:p.Arg224His",
        "hgvsWellDefined": "ENSP00000288774.3:p.Arg224His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "ENST00000447513.6:c.611G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407922.2:p.Arg204His",
        "hgvsWellDefined": "ENSP00000407922.2:p.Arg204His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "ENST00000507596.5:c.611G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424291.1:p.Arg204His",
        "hgvsWellDefined": "ENSP00000424291.1:p.Arg204His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 640,
          "referenceAllele": "G",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "ENST00000510434.1:c.607G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423051.1:p.Ala203Thr",
        "hgvsWellDefined": "ENSP00000423051.1:p.Ala203Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829384994",
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "NM_002617.3:c.611G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002608.1:p.Arg204His",
        "hgvsWellDefined": "NP_002608.1:p.Arg204His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027917"
    },
    {
      "@id": "http://reg.genome.network/allele/PA245494",
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "NM_153818.1:c.671G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722540.1:p.Arg224His",
        "hgvsWellDefined": "NP_722540.1:p.Arg224His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "XM_011541573.1:c.668G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539875.1:p.Arg223His",
        "hgvsWellDefined": "XP_011539875.1:p.Arg223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1157,
          "referenceAllele": "G",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "XM_011541574.1:c.236G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539876.1:p.Arg79His",
        "hgvsWellDefined": "XP_011539876.1:p.Arg79His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "XM_011541575.1:c.236G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539877.1:p.Arg79His",
        "hgvsWellDefined": "XP_011539877.1:p.Arg79His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "XR_946666.1:n.727G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "XR_946666.2:n.676G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828513124",
      "coordinates": [
        {
          "allele": "A",
          "end": 730,
          "referenceAllele": "G",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "NM_001374425.1:c.668G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361354.1:p.Arg223His",
        "hgvsWellDefined": "NP_001361354.1:p.Arg223His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573072980",
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "NM_001374426.1:c.236G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361355.1:p.Arg79His",
        "hgvsWellDefined": "NP_001361355.1:p.Arg79His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828513595",
      "coordinates": [
        {
          "allele": "A",
          "end": 730,
          "referenceAllele": "G",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "NM_001374427.1:c.179G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361356.1:p.Arg60His",
        "hgvsWellDefined": "NP_001361356.1:p.Arg60His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829384994",
      "coordinates": [
        {
          "allele": "A",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "NM_002617.4:c.611G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002608.1:p.Arg204His",
        "hgvsWellDefined": "NP_002608.1:p.Arg204His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695590",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000447513.7:c.611G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002617.4:c.611G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000407922.2:p.Arg204His"
          },
          "RefSeq": {
            "hgvs": "NP_002608.1:p.Arg204His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA245494",
      "coordinates": [
        {
          "allele": "A",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "NM_153818.2:c.671G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722540.1:p.Arg224His",
        "hgvsWellDefined": "NP_722540.1:p.Arg224His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "NR_164636.1:n.726G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705749"
    }
  ],
  "type": "nucleotide"
}