{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414550616",
  "communityStandardTitle": [
    "NM_000276.4(OCRL):c.182A>G (p.His61Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3053418[alleleid]",
        "alleleId": 3053418,
        "preferredName": "NM_000276.4(OCRL):c.182A>G (p.His61Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2884407",
        "RCV": [
          "RCV003623721"
        ],
        "variationId": 2884407
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.128678997A>G?assembly=hg19",
        "id": "chrX:g.128678997A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.129545020A>G?assembly=hg38",
        "id": "chrX:g.129545020A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1286748036",
        "rs": 1286748036
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-128678997-A-G?dataset=gnomad_r2_1",
        "id": "X-128678997-A-G",
        "variant": "X:128678997 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-129545020-A-G?dataset=gnomad_r4",
        "id": "X-129545020-A-G",
        "variant": "X:129545020 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 129545020,
          "referenceAllele": "A",
          "start": 129545019
        }
      ],
      "hgvs": [
        "NC_000023.11:g.129545020A>G",
        "CM000685.2:g.129545020A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 128678997,
          "referenceAllele": "A",
          "start": 128678996
        }
      ],
      "hgvs": [
        "NC_000023.10:g.128678997A>G",
        "CM000685.1:g.128678997A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 128506678,
          "referenceAllele": "A",
          "start": 128506677
        }
      ],
      "hgvs": [
        "NC_000023.9:g.128506678A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9746,
          "referenceAllele": "A",
          "start": 9745
        }
      ],
      "hgvs": [
        "NG_008638.1:g.9746A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001137"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48,
          "referenceAllele": "A",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000689093.1:c.48A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 752,
          "referenceAllele": "A",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000691455.1:c.*474A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510265.1:n.*474A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 139,
          "referenceAllele": "A",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000693473.1:c.139A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 363,
          "referenceAllele": "A",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000371113.9:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360154.4:p.His61Arg",
        "hgvsWellDefined": "ENSP00000360154.4:p.His61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750725",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371113.9:c.182A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000276.4:c.182A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360154.4:p.His61Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000267.2:p.His61Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 139,
          "referenceAllele": "A",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000646010.1:c.139A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 347,
          "referenceAllele": "A",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000357121.5:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349635.5:p.His61Arg",
        "hgvsWellDefined": "ENSP00000349635.5:p.His61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 347,
          "referenceAllele": "A",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000371113.8:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360154.4:p.His61Arg",
        "hgvsWellDefined": "ENSP00000360154.4:p.His61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "referenceAllele": "A",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000486673.1:n.154A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137523",
      "coordinates": [
        {
          "allele": "G",
          "end": 347,
          "referenceAllele": "A",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_000276.3:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000267.2:p.His61Arg",
        "hgvsWellDefined": "NP_000267.2:p.His61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829331637",
      "coordinates": [
        {
          "allele": "G",
          "end": 347,
          "referenceAllele": "A",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001587.3:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001578.2:p.His61Arg",
        "hgvsWellDefined": "NP_001578.2:p.His61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "referenceAllele": "A",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_005262422.1:c.-290A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262479.1:n.-290A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 364,
          "referenceAllele": "A",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531342.1:c.185A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529644.1:p.His62Arg",
        "hgvsWellDefined": "XP_011529644.1:p.His62Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "A",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531343.1:c.185A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529645.1:p.His62Arg",
        "hgvsWellDefined": "XP_011529645.1:p.His62Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 135,
          "referenceAllele": "A",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531344.1:c.-84A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529646.1:n.-84A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098380"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 151,
          "referenceAllele": "A",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.1:c.-84A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:n.-84A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531346.1:c.185A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529648.1:p.His62Arg",
        "hgvsWellDefined": "XP_011529648.1:p.His62Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741861152",
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.1:c.185A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:p.His62Arg",
        "hgvsWellDefined": "NP_001305713.1:p.His62Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "referenceAllele": "A",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_005262422.2:c.-290A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262479.1:n.-290A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535480"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 139,
          "referenceAllele": "A",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531344.3:c.-84A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529646.1:n.-84A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "referenceAllele": "A",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.3:c.-84A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:n.-84A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 278,
          "referenceAllele": "A",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_017029554.1:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885043.1:p.His61Arg",
        "hgvsWellDefined": "XP_016885043.1:p.His61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137523",
      "coordinates": [
        {
          "allele": "G",
          "end": 363,
          "referenceAllele": "A",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_000276.4:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000267.2:p.His61Arg",
        "hgvsWellDefined": "NP_000267.2:p.His61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662380",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371113.9:c.182A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000276.4:c.182A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360154.4:p.His61Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000267.2:p.His61Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741861152",
      "coordinates": [
        {
          "allele": "G",
          "end": 366,
          "referenceAllele": "A",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.2:c.185A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:p.His62Arg",
        "hgvsWellDefined": "NP_001305713.1:p.His62Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829331637",
      "coordinates": [
        {
          "allele": "G",
          "end": 363,
          "referenceAllele": "A",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001587.4:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001578.2:p.His61Arg",
        "hgvsWellDefined": "NP_001578.2:p.His61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695324"
    }
  ],
  "type": "nucleotide"
}