{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414551026",
  "communityStandardTitle": [
    "NM_000276.4(OCRL):c.349+2T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3019268[alleleid]",
        "alleleId": 3019268,
        "preferredName": "NM_000276.4(OCRL):c.349+2T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2863080",
        "RCV": [
          "RCV003623439"
        ],
        "variationId": 2863080
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.128691414T>G?assembly=hg19",
        "id": "chrX:g.128691414T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.129557437T>G?assembly=hg38",
        "id": "chrX:g.129557437T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2521873405",
        "rs": 2521873405
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 129557437,
          "referenceAllele": "T",
          "start": 129557436
        }
      ],
      "hgvs": [
        "NC_000023.11:g.129557437T>G",
        "CM000685.2:g.129557437T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 128691414,
          "referenceAllele": "T",
          "start": 128691413
        }
      ],
      "hgvs": [
        "NC_000023.10:g.128691414T>G",
        "CM000685.1:g.128691414T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 128519095,
          "referenceAllele": "T",
          "start": 128519094
        }
      ],
      "hgvs": [
        "NC_000023.9:g.128519095T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22163,
          "referenceAllele": "T",
          "start": 22162
        }
      ],
      "hgvs": [
        "NG_008638.1:g.22163T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001137"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1426,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1426,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000689093.1:c.1426+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 919,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 919,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000691455.1:c.*641+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510265.1:n.*641+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 466,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 466,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000693473.1:c.466+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 530,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 530,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000371113.9:c.349+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360154.4:n.349+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750725",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371113.9:c.349+2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000276.4:c.349+2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360154.4:n.349+2T>G"
          },
          "RefSeq": {
            "hgvs": "NP_000267.2:n.349+2T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 397,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000646010.1:c.397+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 514,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 514,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000357121.5:c.349+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349635.5:n.349+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 514,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 514,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000371113.8:c.349+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360154.4:n.349+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000486673.1:n.591+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 514,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 514,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_000276.3:c.349+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000267.2:n.349+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 514,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 514,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001587.3:c.349+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001578.2:n.349+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 321,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 321,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_005262422.1:c.-123+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262479.1:n.-123+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 531,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531342.1:c.352+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529644.1:n.352+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 444,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 444,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531343.1:c.352+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529645.1:n.352+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 423,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531344.1:c.205+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529646.1:n.205+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098380"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 439,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 439,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.1:c.205+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:n.205+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 446,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 446,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531346.1:c.352+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529648.1:n.352+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098382"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 537,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 537,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.1:c.352+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:n.352+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 321,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 321,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_005262422.2:c.-123+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262479.1:n.-123+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535480"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 427,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 427,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531344.3:c.205+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529646.1:n.205+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 430,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 430,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.3:c.205+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:n.205+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 445,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_017029554.1:c.349+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885043.1:n.349+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 530,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 530,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_000276.4:c.349+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000267.2:n.349+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662380",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371113.9:c.349+2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000276.4:c.349+2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360154.4:n.349+2T>G"
          },
          "RefSeq": {
            "hgvs": "NP_000267.2:n.349+2T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 533,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 533,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.2:c.352+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:n.352+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 530,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 530,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001587.4:c.349+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001578.2:n.349+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695324"
    }
  ],
  "type": "nucleotide"
}