{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA501121",
  "communityStandardTitle": [
    "NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1862838[alleleid]",
        "alleleId": 1862838,
        "preferredName": "NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1805827",
        "RCV": [
          "RCV002472245"
        ],
        "variationId": 1805827
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.128723933G>A?assembly=hg19",
        "id": "chrX:g.128723933G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.129589956G>A?assembly=hg38",
        "id": "chrX:g.129589956G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2124430527",
        "rs": 2124430527
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 129589956,
          "referenceAllele": "G",
          "start": 129589955
        }
      ],
      "hgvs": [
        "NC_000023.11:g.129589956G>A",
        "CM000685.2:g.129589956G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 128723933,
          "referenceAllele": "G",
          "start": 128723932
        }
      ],
      "hgvs": [
        "NC_000023.10:g.128723933G>A",
        "CM000685.1:g.128723933G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 128551614,
          "referenceAllele": "G",
          "start": 128551613
        }
      ],
      "hgvs": [
        "NC_000023.9:g.128551614G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54682,
          "referenceAllele": "G",
          "start": 54681
        }
      ],
      "hgvs": [
        "NG_008638.1:g.54682G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001137"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2698,
          "referenceAllele": "G",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000693473.1:c.2698G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2762,
          "referenceAllele": "G",
          "start": 2761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000371113.9:c.2581G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360154.4:p.Ala861Thr",
        "hgvsWellDefined": "ENSP00000360154.4:p.Ala861Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750725",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371113.9:c.2581G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000276.4:c.2581G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360154.4:p.Ala861Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000267.2:p.Ala861Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2629,
          "referenceAllele": "G",
          "start": 2628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000646010.1:c.2629G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "referenceAllele": "G",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000646914.1:c.1886G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2132,
          "referenceAllele": "G",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000647245.1:c.2132G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2722,
          "referenceAllele": "G",
          "start": 2721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000357121.5:c.2557G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349635.5:p.Ala853Thr",
        "hgvsWellDefined": "ENSP00000349635.5:p.Ala853Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2746,
          "referenceAllele": "G",
          "start": 2745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000371113.8:c.2581G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360154.4:p.Ala861Thr",
        "hgvsWellDefined": "ENSP00000360154.4:p.Ala861Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000463271.1:n.368G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137817",
      "coordinates": [
        {
          "allele": "A",
          "end": 2746,
          "referenceAllele": "G",
          "start": 2745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_000276.3:c.2581G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000267.2:p.Ala861Thr",
        "hgvsWellDefined": "NP_000267.2:p.Ala861Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332169",
      "coordinates": [
        {
          "allele": "A",
          "end": 2722,
          "referenceAllele": "G",
          "start": 2721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001587.3:c.2557G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001578.2:p.Ala853Thr",
        "hgvsWellDefined": "NP_001578.2:p.Ala853Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2553,
          "referenceAllele": "G",
          "start": 2552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_005262422.1:c.2110G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262479.1:p.Ala704Thr",
        "hgvsWellDefined": "XP_005262479.1:p.Ala704Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2763,
          "referenceAllele": "G",
          "start": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531342.1:c.2584G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529644.1:p.Ala862Thr",
        "hgvsWellDefined": "XP_011529644.1:p.Ala862Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2652,
          "referenceAllele": "G",
          "start": 2651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531343.1:c.2560G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529645.1:p.Ala854Thr",
        "hgvsWellDefined": "XP_011529645.1:p.Ala854Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2655,
          "referenceAllele": "G",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531344.1:c.2437G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529646.1:p.Ala813Thr",
        "hgvsWellDefined": "XP_011529646.1:p.Ala813Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2671,
          "referenceAllele": "G",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.1:c.2437G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:p.Ala813Thr",
        "hgvsWellDefined": "XP_011529647.1:p.Ala813Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098381"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580202487",
      "coordinates": [
        {
          "allele": "A",
          "end": 2769,
          "referenceAllele": "G",
          "start": 2768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.1:c.2584G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:p.Ala862Thr",
        "hgvsWellDefined": "NP_001305713.1:p.Ala862Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2553,
          "referenceAllele": "G",
          "start": 2552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_005262422.2:c.2110G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262479.1:p.Ala704Thr",
        "hgvsWellDefined": "XP_005262479.1:p.Ala704Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2659,
          "referenceAllele": "G",
          "start": 2658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531344.3:c.2437G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529646.1:p.Ala813Thr",
        "hgvsWellDefined": "XP_011529646.1:p.Ala813Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2662,
          "referenceAllele": "G",
          "start": 2661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.3:c.2437G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:p.Ala813Thr",
        "hgvsWellDefined": "XP_011529647.1:p.Ala813Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137817",
      "coordinates": [
        {
          "allele": "A",
          "end": 2762,
          "referenceAllele": "G",
          "start": 2761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_000276.4:c.2581G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000267.2:p.Ala861Thr",
        "hgvsWellDefined": "NP_000267.2:p.Ala861Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662380",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371113.9:c.2581G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000276.4:c.2581G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360154.4:p.Ala861Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000267.2:p.Ala861Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580202487",
      "coordinates": [
        {
          "allele": "A",
          "end": 2765,
          "referenceAllele": "G",
          "start": 2764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.2:c.2584G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:p.Ala862Thr",
        "hgvsWellDefined": "NP_001305713.1:p.Ala862Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332169",
      "coordinates": [
        {
          "allele": "A",
          "end": 2738,
          "referenceAllele": "G",
          "start": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001587.4:c.2557G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001578.2:p.Ala853Thr",
        "hgvsWellDefined": "NP_001578.2:p.Ala853Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695324"
    }
  ],
  "type": "nucleotide"
}