{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2600890",
  "communityStandardTitle": [
    "NM_004637.6(RAB7A):c.603G>A (p.Ser201=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1037997",
        "active": true,
        "id": "COSM1037997"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=691299[alleleid]",
        "alleleId": 691299,
        "preferredName": "NM_004637.6(RAB7A):c.603G>A (p.Ser201=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/704349",
        "RCV": [
          "RCV000874356",
          "RCV004027842"
        ],
        "variationId": 704349
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-128532244-G-A",
        "id": "3-128532244-G-A",
        "variant": "3:128532244 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128532244G>A?assembly=hg19",
        "id": "chr3:g.128532244G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128813401G>A?assembly=hg38",
        "id": "chr3:g.128813401G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61748098",
        "rs": 61748098
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-128532244-G-A?dataset=gnomad_r2_1",
        "id": "3-128532244-G-A",
        "variant": "3:128532244 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-128813401-G-A?dataset=gnomad_r3",
        "id": "3-128813401-G-A",
        "variant": "3:128813401 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-128813401-G-A?dataset=gnomad_r4",
        "id": "3-128813401-G-A",
        "variant": "3:128813401 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 128813401,
          "referenceAllele": "G",
          "start": 128813400
        }
      ],
      "hgvs": [
        "NC_000003.12:g.128813401G>A",
        "CM000665.2:g.128813401G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 128532244,
          "referenceAllele": "G",
          "start": 128532243
        }
      ],
      "hgvs": [
        "NC_000003.11:g.128532244G>A",
        "CM000665.1:g.128532244G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 130014934,
          "referenceAllele": "G",
          "start": 130014933
        }
      ],
      "hgvs": [
        "NC_000003.10:g.130014934G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 92266,
          "referenceAllele": "G",
          "start": 92265
        }
      ],
      "hgvs": [
        "NG_008070.1:g.92266G>A",
        "LRG_266:g.92266G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000816"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000265062.8:c.603G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265062.3:p.Ser201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265062.8:c.603G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004637.6:c.603G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265062.3:p.Ser201="
          },
          "RefSeq": {
            "hgvs": "NP_004628.4:p.Ser201="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 827,
          "referenceAllele": "G",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000490093.6:c.*145G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418955.2:n.*145G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000493186.6:c.276G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417189.1:p.Ser92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "referenceAllele": "G",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000674589.1:c.603G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502088.1:p.Ser201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 601,
          "referenceAllele": "G",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000674593.1:n.601G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000674748.1:c.531G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502224.1:p.Ser177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000675342.1:c.603G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502486.1:p.Ser201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 843,
          "referenceAllele": "G",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000675497.1:c.603G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502000.1:p.Ser201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1787,
          "referenceAllele": "G",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000675712.1:n.1787G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775495"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 760,
          "endIntronDirection": "+",
          "endIntronOffset": 5730,
          "referenceAllele": "G",
          "start": 760,
          "startIntronDirection": "+",
          "startIntronOffset": 5729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000675864.1:c.528+5730G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502566.1:n.528+5730G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 683,
          "referenceAllele": "G",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000676147.1:c.683G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000676214.1:c.603G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501618.1:p.Ser201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 947,
          "referenceAllele": "G",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000676425.1:c.*79G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502084.1:n.*79G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 849,
          "referenceAllele": "G",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000265062.7:c.603G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265062.3:p.Ser201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251657"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000482525.5:c.462G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417668.1:p.Ser154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000483906.5:c.384G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417155.1:p.Ser128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 264,
          "referenceAllele": "G",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000485280.1:c.255G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418283.1:p.Ser85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 285,
          "referenceAllele": "G",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "ENST00000493186.5:c.276G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417189.1:p.Ser92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829558976",
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "referenceAllele": "G",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "NM_004637.5:c.603G>A",
        "LRG_266t1:c.603G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004628.4:p.Ser201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "XM_024453745.1:c.603G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309513.1:p.Ser201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1787,
          "referenceAllele": "G",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "XR_002959582.1:n.1787G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1715,
          "referenceAllele": "G",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "XR_002959583.1:n.1715G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829558976",
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "NM_004637.6:c.603G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004628.4:p.Ser201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696199",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265062.8:c.603G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004637.6:c.603G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265062.3:p.Ser201="
          },
          "RefSeq": {
            "hgvs": "NP_004628.4:p.Ser201="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}