{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2600799",
  "communityStandardTitle": [
    "NM_004637.6(RAB7A):c.252C>T (p.Cys84=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1092012[alleleid]",
        "alleleId": 1092012,
        "preferredName": "NM_004637.6(RAB7A):c.252C>T (p.Cys84=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1101355",
        "RCV": [
          "RCV001424263"
        ],
        "variationId": 1101355
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-128525286-C-T",
        "id": "3-128525286-C-T",
        "variant": "3:128525286 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128525286C>T?assembly=hg19",
        "id": "chr3:g.128525286C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128806443C>T?assembly=hg38",
        "id": "chr3:g.128806443C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778176566",
        "rs": 778176566
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-128525286-C-T?dataset=gnomad_r2_1",
        "id": "3-128525286-C-T",
        "variant": "3:128525286 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-128806443-C-T?dataset=gnomad_r3",
        "id": "3-128806443-C-T",
        "variant": "3:128806443 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-128806443-C-T?dataset=gnomad_r4",
        "id": "3-128806443-C-T",
        "variant": "3:128806443 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 128806443,
          "referenceAllele": "C",
          "start": 128806442
        }
      ],
      "hgvs": [
        "NC_000003.12:g.128806443C>T",
        "CM000665.2:g.128806443C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 128525286,
          "referenceAllele": "C",
          "start": 128525285
        }
      ],
      "hgvs": [
        "NC_000003.11:g.128525286C>T",
        "CM000665.1:g.128525286C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 130007976,
          "referenceAllele": "C",
          "start": 130007975
        }
      ],
      "hgvs": [
        "NC_000003.10:g.130007976C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85308,
          "referenceAllele": "C",
          "start": 85307
        }
      ],
      "hgvs": [
        "NG_008070.1:g.85308C>T",
        "LRG_266:g.85308C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000816"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000265062.8:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265062.3:p.Cys84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265062.8:c.252C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004637.6:c.252C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265062.3:p.Cys84="
          },
          "RefSeq": {
            "hgvs": "NP_004628.4:p.Cys84="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000490093.6:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418955.2:p.Cys84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "endIntronDirection": "-",
          "endIntronOffset": 1174,
          "referenceAllele": "C",
          "start": 332,
          "startIntronDirection": "-",
          "startIntronOffset": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000493186.6:c.148-1175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417189.1:n.148-1175C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000674589.1:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502088.1:p.Cys84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 250,
          "referenceAllele": "C",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000674593.1:n.250C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000674748.1:c.180C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502224.1:p.Cys60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "referenceAllele": "C",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000675342.1:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502486.1:p.Cys84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000675497.1:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502000.1:p.Cys84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 484,
          "referenceAllele": "C",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000675712.1:n.484C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 484,
          "referenceAllele": "C",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000675864.1:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502566.1:p.Cys84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000676147.1:c.332C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000676214.1:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501618.1:p.Cys84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 484,
          "referenceAllele": "C",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000676425.1:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502084.1:p.Cys84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000265062.7:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265062.3:p.Cys84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000464496.5:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417978.1:p.Cys84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000482525.5:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417668.1:p.Cys84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 189,
          "endIntronDirection": "-",
          "endIntronOffset": 1099,
          "referenceAllele": "C",
          "start": 189,
          "startIntronDirection": "-",
          "startIntronOffset": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000483906.5:c.181-1100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417155.1:n.181-1100C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 189,
          "endIntronDirection": "-",
          "endIntronOffset": 6883,
          "referenceAllele": "C",
          "start": 189,
          "startIntronDirection": "-",
          "startIntronOffset": 6884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000485280.1:c.181-6884C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418283.1:n.181-6884C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 261,
          "referenceAllele": "C",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000490093.5:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418955.1:p.Cys84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 156,
          "endIntronDirection": "-",
          "endIntronOffset": 1174,
          "referenceAllele": "C",
          "start": 156,
          "startIntronDirection": "-",
          "startIntronOffset": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000493186.5:c.148-1175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417189.1:n.148-1175C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829558937",
      "coordinates": [
        {
          "allele": "T",
          "end": 484,
          "referenceAllele": "C",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "NM_004637.5:c.252C>T",
        "LRG_266t1:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004628.4:p.Cys84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029792"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "referenceAllele": "C",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "XM_024453745.1:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309513.1:p.Cys84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 484,
          "referenceAllele": "C",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "XR_002959582.1:n.484C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "XR_002959583.1:n.412C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829558937",
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "NM_004637.6:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004628.4:p.Cys84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696199",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265062.8:c.252C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004637.6:c.252C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265062.3:p.Cys84="
          },
          "RefSeq": {
            "hgvs": "NP_004628.4:p.Cys84="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}