{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4017551",
  "communityStandardTitle": [
    "NM_000288.4(PEX7):c.330C>T (p.His110=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275145[alleleid]",
        "alleleId": 275145,
        "preferredName": "NM_000288.4(PEX7):c.330C>T (p.His110=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290908",
        "RCV": [
          "RCV000366386",
          "RCV001274736",
          "RCV001088047",
          "RCV004543144"
        ],
        "variationId": 290908
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-137147598-C-T",
        "id": "6-137147598-C-T",
        "variant": "6:137147598 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.137147598C>T?assembly=hg19",
        "id": "chr6:g.137147598C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.136826460C>T?assembly=hg38",
        "id": "chr6:g.136826460C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199648976",
        "rs": 199648976
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-137147598-C-T?dataset=gnomad_r2_1",
        "id": "6-137147598-C-T",
        "variant": "6:137147598 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-136826460-C-T?dataset=gnomad_r3",
        "id": "6-136826460-C-T",
        "variant": "6:136826460 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-136826460-C-T?dataset=gnomad_r4",
        "id": "6-136826460-C-T",
        "variant": "6:136826460 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 136826460,
          "referenceAllele": "C",
          "start": 136826459
        }
      ],
      "hgvs": [
        "NC_000006.12:g.136826460C>T",
        "CM000668.2:g.136826460C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 137147598,
          "referenceAllele": "C",
          "start": 137147597
        }
      ],
      "hgvs": [
        "NC_000006.11:g.137147598C>T",
        "CM000668.1:g.137147598C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 137189291,
          "referenceAllele": "C",
          "start": 137189290
        }
      ],
      "hgvs": [
        "NC_000006.10:g.137189291C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8881,
          "referenceAllele": "C",
          "start": 8880
        }
      ],
      "hgvs": [
        "NG_008462.1:g.8881C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001108"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000318471.5:c.330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315680.3:p.His110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746222",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318471.5:c.330C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000288.4:c.330C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315680.3:p.His110="
          },
          "RefSeq": {
            "hgvs": "NP_000279.1:p.His110="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000541292.6:c.330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441004.1:p.His110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205,
          "referenceAllele": "C",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000678002.1:c.205C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000678557.1:c.216C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502962.1:p.His72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "referenceAllele": "C",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000678593.1:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503841.1:n.335C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000679286.1:c.210C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503168.1:p.His70="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 411,
          "referenceAllele": "C",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000318471.4:c.330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315680.3:p.His110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "referenceAllele": "C",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000367756.8:c.330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356730.4:p.His110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000541292.5:c.330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441004.1:p.His110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825141487",
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "NM_000288.3:c.330C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000279.1:p.His110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_005267019.3:c.216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267076.1:p.His72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_006715502.1:c.330C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715565.1:p.His110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_011535900.1:c.330C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534202.1:p.His110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_005267019.4:c.216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267076.1:p.His72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1102,
          "referenceAllele": "C",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_006715502.2:c.330C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715565.1:p.His110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1313,
          "referenceAllele": "C",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_017010934.2:c.330C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866423.1:p.His110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825141487",
      "coordinates": [
        {
          "allele": "T",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "NM_000288.4:c.330C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000279.1:p.His110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662387",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318471.5:c.330C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000288.4:c.330C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315680.3:p.His110="
          },
          "RefSeq": {
            "hgvs": "NP_000279.1:p.His110="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}