{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA148643333",
  "communityStandardTitle": [
    "NM_000288.4(PEX7):c.400G>T (p.Asp134Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4174880[alleleid]",
        "alleleId": 4174880,
        "preferredName": "NM_000288.4(PEX7):c.400G>T (p.Asp134Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4059691",
        "RCV": [
          "RCV005611440"
        ],
        "variationId": 4059691
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.137166813G>T?assembly=hg19",
        "id": "chr6:g.137166813G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.136845675G>T?assembly=hg38",
        "id": "chr6:g.136845675G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764346452",
        "rs": 764346452
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 136845675,
          "referenceAllele": "G",
          "start": 136845674
        }
      ],
      "hgvs": [
        "NC_000006.12:g.136845675G>T",
        "CM000668.2:g.136845675G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 137166813,
          "referenceAllele": "G",
          "start": 137166812
        }
      ],
      "hgvs": [
        "NC_000006.11:g.137166813G>T",
        "CM000668.1:g.137166813G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 137208506,
          "referenceAllele": "G",
          "start": 137208505
        }
      ],
      "hgvs": [
        "NC_000006.10:g.137208506G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28096,
          "referenceAllele": "G",
          "start": 28095
        }
      ],
      "hgvs": [
        "NG_008462.1:g.28096G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001108"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000318471.5:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315680.3:p.Asp134Tyr",
        "hgvsWellDefined": "ENSP00000315680.3:p.Asp134Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746222",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318471.5:c.400G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000288.4:c.400G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315680.3:p.Asp134Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000279.1:p.Asp134Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000541292.6:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441004.1:p.Asp134Tyr",
        "hgvsWellDefined": "ENSP00000441004.1:p.Asp134Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214,
          "endIntronDirection": "+",
          "endIntronOffset": 19206,
          "referenceAllele": "G",
          "start": 214,
          "startIntronDirection": "+",
          "startIntronOffset": 19205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000678002.1:c.214+19206G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 752,
          "referenceAllele": "G",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000678557.1:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502962.1:p.Asp96Tyr",
        "hgvsWellDefined": "ENSP00000502962.1:p.Asp96Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 405,
          "referenceAllele": "G",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000678593.1:c.405G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503841.1:n.405G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000679286.1:c.280G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503168.1:p.Asp94Tyr",
        "hgvsWellDefined": "ENSP00000503168.1:p.Asp94Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000318471.4:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315680.3:p.Asp134Tyr",
        "hgvsWellDefined": "ENSP00000315680.3:p.Asp134Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000541292.5:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441004.1:p.Asp134Tyr",
        "hgvsWellDefined": "ENSP00000441004.1:p.Asp134Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072447295",
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "NM_000288.3:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000279.1:p.Asp134Tyr",
        "hgvsWellDefined": "NP_000279.1:p.Asp134Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_005267019.3:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267076.1:p.Asp96Tyr",
        "hgvsWellDefined": "XP_005267076.1:p.Asp96Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 785,
          "endIntronDirection": "+",
          "endIntronOffset": 19206,
          "referenceAllele": "G",
          "start": 785,
          "startIntronDirection": "+",
          "startIntronOffset": 19205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_006715502.1:c.339+19206G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715565.1:n.339+19206G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_011535900.1:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534202.1:p.Asp134Tyr",
        "hgvsWellDefined": "XP_011534202.1:p.Asp134Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_005267019.4:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267076.1:p.Asp96Tyr",
        "hgvsWellDefined": "XP_005267076.1:p.Asp96Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1111,
          "endIntronDirection": "+",
          "endIntronOffset": 19206,
          "referenceAllele": "G",
          "start": 1111,
          "startIntronDirection": "+",
          "startIntronOffset": 19205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_006715502.2:c.339+19206G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715565.1:n.339+19206G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "G",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_017010934.2:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866423.1:p.Asp134Tyr",
        "hgvsWellDefined": "XP_016866423.1:p.Asp134Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072447295",
      "coordinates": [
        {
          "allele": "T",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "NM_000288.4:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000279.1:p.Asp134Tyr",
        "hgvsWellDefined": "NP_000279.1:p.Asp134Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662387",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318471.5:c.400G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000288.4:c.400G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315680.3:p.Asp134Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000279.1:p.Asp134Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}