{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA255585",
  "communityStandardTitle": [
    "NM_000276.4(OCRL):c.1572C>G (p.His524Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25898[alleleid]",
        "alleleId": 25898,
        "preferredName": "NM_000276.4(OCRL):c.1572C>G (p.His524Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10859",
        "RCV": [
          "RCV000011606"
        ],
        "variationId": 10859
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.128703346C>G?assembly=hg19",
        "id": "chrX:g.128703346C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.129569369C>G?assembly=hg38",
        "id": "chrX:g.129569369C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853261",
        "rs": 137853261
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 129569369,
          "referenceAllele": "C",
          "start": 129569368
        }
      ],
      "hgvs": [
        "NC_000023.11:g.129569369C>G",
        "CM000685.2:g.129569369C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 128703346,
          "referenceAllele": "C",
          "start": 128703345
        }
      ],
      "hgvs": [
        "NC_000023.10:g.128703346C>G",
        "CM000685.1:g.128703346C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 128531027,
          "referenceAllele": "C",
          "start": 128531026
        }
      ],
      "hgvs": [
        "NC_000023.9:g.128531027C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34095,
          "referenceAllele": "C",
          "start": 34094
        }
      ],
      "hgvs": [
        "NG_008638.1:g.34095C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001137"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2142,
          "referenceAllele": "C",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000691455.1:c.*1864C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510265.1:n.*1864C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1689,
          "referenceAllele": "C",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000693473.1:c.1689C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1753,
          "referenceAllele": "C",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000371113.9:c.1572C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360154.4:p.His524Gln",
        "hgvsWellDefined": "ENSP00000360154.4:p.His524Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750725",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371113.9:c.1572C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000276.4:c.1572C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360154.4:p.His524Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000267.2:p.His524Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1620,
          "referenceAllele": "C",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000646010.1:c.1620C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000646914.1:c.683C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1223,
          "referenceAllele": "C",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000647245.1:c.1223C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1737,
          "referenceAllele": "C",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000357121.5:c.1572C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349635.5:p.His524Gln",
        "hgvsWellDefined": "ENSP00000349635.5:p.His524Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1737,
          "referenceAllele": "C",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000371113.8:c.1572C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360154.4:p.His524Gln",
        "hgvsWellDefined": "ENSP00000360154.4:p.His524Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104677",
      "coordinates": [
        {
          "allele": "G",
          "end": 1737,
          "referenceAllele": "C",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_000276.3:c.1572C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000267.2:p.His524Gln",
        "hgvsWellDefined": "NP_000267.2:p.His524Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255586",
      "coordinates": [
        {
          "allele": "G",
          "end": 1737,
          "referenceAllele": "C",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001587.3:c.1572C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001578.2:p.His524Gln",
        "hgvsWellDefined": "NP_001578.2:p.His524Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1544,
          "referenceAllele": "C",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_005262422.1:c.1101C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262479.1:p.His367Gln",
        "hgvsWellDefined": "XP_005262479.1:p.His367Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1754,
          "referenceAllele": "C",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531342.1:c.1575C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529644.1:p.His525Gln",
        "hgvsWellDefined": "XP_011529644.1:p.His525Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1667,
          "referenceAllele": "C",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531343.1:c.1575C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529645.1:p.His525Gln",
        "hgvsWellDefined": "XP_011529645.1:p.His525Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1646,
          "referenceAllele": "C",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531344.1:c.1428C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529646.1:p.His476Gln",
        "hgvsWellDefined": "XP_011529646.1:p.His476Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098380"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1662,
          "referenceAllele": "C",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.1:c.1428C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:p.His476Gln",
        "hgvsWellDefined": "XP_011529647.1:p.His476Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1669,
          "referenceAllele": "C",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531346.1:c.1575C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529648.1:p.His525Gln",
        "hgvsWellDefined": "XP_011529648.1:p.His525Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022624",
      "coordinates": [
        {
          "allele": "G",
          "end": 1760,
          "referenceAllele": "C",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.1:c.1575C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:p.His525Gln",
        "hgvsWellDefined": "NP_001305713.1:p.His525Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1544,
          "referenceAllele": "C",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_005262422.2:c.1101C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262479.1:p.His367Gln",
        "hgvsWellDefined": "XP_005262479.1:p.His367Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535480"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1650,
          "referenceAllele": "C",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531344.3:c.1428C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529646.1:p.His476Gln",
        "hgvsWellDefined": "XP_011529646.1:p.His476Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1653,
          "referenceAllele": "C",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.3:c.1428C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:p.His476Gln",
        "hgvsWellDefined": "XP_011529647.1:p.His476Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1668,
          "referenceAllele": "C",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_017029554.1:c.1572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885043.1:p.His524Gln",
        "hgvsWellDefined": "XP_016885043.1:p.His524Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104677",
      "coordinates": [
        {
          "allele": "G",
          "end": 1753,
          "referenceAllele": "C",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_000276.4:c.1572C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000267.2:p.His524Gln",
        "hgvsWellDefined": "NP_000267.2:p.His524Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662380",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371113.9:c.1572C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000276.4:c.1572C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360154.4:p.His524Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000267.2:p.His524Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022624",
      "coordinates": [
        {
          "allele": "G",
          "end": 1756,
          "referenceAllele": "C",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.2:c.1575C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:p.His525Gln",
        "hgvsWellDefined": "NP_001305713.1:p.His525Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255586",
      "coordinates": [
        {
          "allele": "G",
          "end": 1753,
          "referenceAllele": "C",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001587.4:c.1572C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001578.2:p.His524Gln",
        "hgvsWellDefined": "NP_001578.2:p.His524Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695324"
    }
  ],
  "type": "nucleotide"
}