{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414616269",
  "communityStandardTitle": [
    "NM_000276.4(OCRL):c.1478G>A (p.Arg493Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3080258[alleleid]",
        "alleleId": 3080258,
        "preferredName": "NM_000276.4(OCRL):c.1478G>A (p.Arg493Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2918137",
        "RCV": [
          "RCV003622371"
        ],
        "variationId": 2918137
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.128703252G>A?assembly=hg19",
        "id": "chrX:g.128703252G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.129569275G>A?assembly=hg38",
        "id": "chrX:g.129569275G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2521906115",
        "rs": 2521906115
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-129569275-G-A?dataset=gnomad_r4",
        "id": "X-129569275-G-A",
        "variant": "X:129569275 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 129569275,
          "referenceAllele": "G",
          "start": 129569274
        }
      ],
      "hgvs": [
        "NC_000023.11:g.129569275G>A",
        "CM000685.2:g.129569275G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 128703252,
          "referenceAllele": "G",
          "start": 128703251
        }
      ],
      "hgvs": [
        "NC_000023.10:g.128703252G>A",
        "CM000685.1:g.128703252G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 128530933,
          "referenceAllele": "G",
          "start": 128530932
        }
      ],
      "hgvs": [
        "NC_000023.9:g.128530933G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34001,
          "referenceAllele": "G",
          "start": 34000
        }
      ],
      "hgvs": [
        "NG_008638.1:g.34001G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001137"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2048,
          "referenceAllele": "G",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000691455.1:c.*1770G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510265.1:n.*1770G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1595,
          "referenceAllele": "G",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000693473.1:c.1595G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000371113.9:c.1478G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360154.4:p.Arg493Gln",
        "hgvsWellDefined": "ENSP00000360154.4:p.Arg493Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750725",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371113.9:c.1478G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000276.4:c.1478G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360154.4:p.Arg493Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000267.2:p.Arg493Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000646010.1:c.1526G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 589,
          "referenceAllele": "G",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000646914.1:c.589G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1129,
          "referenceAllele": "G",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000647245.1:c.1129G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1643,
          "referenceAllele": "G",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000357121.5:c.1478G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349635.5:p.Arg493Gln",
        "hgvsWellDefined": "ENSP00000349635.5:p.Arg493Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1643,
          "referenceAllele": "G",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000371113.8:c.1478G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360154.4:p.Arg493Gln",
        "hgvsWellDefined": "ENSP00000360154.4:p.Arg493Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137683",
      "coordinates": [
        {
          "allele": "A",
          "end": 1643,
          "referenceAllele": "G",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_000276.3:c.1478G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000267.2:p.Arg493Gln",
        "hgvsWellDefined": "NP_000267.2:p.Arg493Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829331943",
      "coordinates": [
        {
          "allele": "A",
          "end": 1643,
          "referenceAllele": "G",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001587.3:c.1478G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001578.2:p.Arg493Gln",
        "hgvsWellDefined": "NP_001578.2:p.Arg493Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1450,
          "referenceAllele": "G",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_005262422.1:c.1007G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262479.1:p.Arg336Gln",
        "hgvsWellDefined": "XP_005262479.1:p.Arg336Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1660,
          "referenceAllele": "G",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531342.1:c.1481G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529644.1:p.Arg494Gln",
        "hgvsWellDefined": "XP_011529644.1:p.Arg494Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1573,
          "referenceAllele": "G",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531343.1:c.1481G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529645.1:p.Arg494Gln",
        "hgvsWellDefined": "XP_011529645.1:p.Arg494Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1552,
          "referenceAllele": "G",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531344.1:c.1334G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529646.1:p.Arg445Gln",
        "hgvsWellDefined": "XP_011529646.1:p.Arg445Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1568,
          "referenceAllele": "G",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.1:c.1334G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:p.Arg445Gln",
        "hgvsWellDefined": "XP_011529647.1:p.Arg445Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1575,
          "referenceAllele": "G",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531346.1:c.1481G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529648.1:p.Arg494Gln",
        "hgvsWellDefined": "XP_011529648.1:p.Arg494Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741861227",
      "coordinates": [
        {
          "allele": "A",
          "end": 1666,
          "referenceAllele": "G",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.1:c.1481G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:p.Arg494Gln",
        "hgvsWellDefined": "NP_001305713.1:p.Arg494Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1450,
          "referenceAllele": "G",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_005262422.2:c.1007G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262479.1:p.Arg336Gln",
        "hgvsWellDefined": "XP_005262479.1:p.Arg336Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1556,
          "referenceAllele": "G",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531344.3:c.1334G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529646.1:p.Arg445Gln",
        "hgvsWellDefined": "XP_011529646.1:p.Arg445Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1559,
          "referenceAllele": "G",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.3:c.1334G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:p.Arg445Gln",
        "hgvsWellDefined": "XP_011529647.1:p.Arg445Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1574,
          "referenceAllele": "G",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_017029554.1:c.1478G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885043.1:p.Arg493Gln",
        "hgvsWellDefined": "XP_016885043.1:p.Arg493Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137683",
      "coordinates": [
        {
          "allele": "A",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_000276.4:c.1478G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000267.2:p.Arg493Gln",
        "hgvsWellDefined": "NP_000267.2:p.Arg493Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662380",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371113.9:c.1478G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000276.4:c.1478G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360154.4:p.Arg493Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000267.2:p.Arg493Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741861227",
      "coordinates": [
        {
          "allele": "A",
          "end": 1662,
          "referenceAllele": "G",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.2:c.1481G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:p.Arg494Gln",
        "hgvsWellDefined": "NP_001305713.1:p.Arg494Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829331943",
      "coordinates": [
        {
          "allele": "A",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001587.4:c.1478G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001578.2:p.Arg493Gln",
        "hgvsWellDefined": "NP_001578.2:p.Arg493Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695324"
    }
  ],
  "type": "nucleotide"
}