{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1989482814",
  "communityStandardTitle": [
    "NM_001814.6(CTSC):c.901G= (p.Gly301=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894214",
        "rs": 104894214
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 88294497,
          "referenceAllele": "C",
          "start": 88294496
        }
      ],
      "hgvs": [
        "NC_000011.10:g.88294497C=",
        "CM000673.2:g.88294497C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 88027665,
          "referenceAllele": "C",
          "start": 88027664
        }
      ],
      "hgvs": [
        "NC_000011.9:g.88027665C=",
        "CM000673.1:g.88027665C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 87667313,
          "referenceAllele": "C",
          "start": 87667312
        }
      ],
      "hgvs": [
        "NC_000011.8:g.87667313C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48277,
          "referenceAllele": "G",
          "start": 48276
        }
      ],
      "hgvs": [
        "NG_007952.1:g.48277G=",
        "LRG_50:g.48277G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000227266.10:c.901G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227266.4:p.Gly301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740719",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227266.10:c.901G="
          },
          "RefSeq": {
            "hgvs": "NM_001814.6:c.901G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227266.4:p.Gly301="
          },
          "RefSeq": {
            "hgvs": "NP_001805.4:p.Gly301="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5214,
          "referenceAllele": "G",
          "start": 5213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000533897.2:n.5214G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 923,
          "referenceAllele": "G",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000676612.1:c.*708G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504440.1:n.*708G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 757,
          "referenceAllele": "G",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000677208.1:c.*407G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504347.1:n.*407G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776871"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000677661.1:c.*578G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503323.1:n.*578G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000677802.1:c.*578G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504115.1:n.*578G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 897,
          "referenceAllele": "G",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678395.1:c.*407G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503123.1:n.*407G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 953,
          "endIntronDirection": "-",
          "endIntronOffset": 21,
          "referenceAllele": "G",
          "start": 953,
          "startIntronDirection": "-",
          "startIntronOffset": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678464.1:c.890-22G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503046.1:n.890-22G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778109"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 962,
          "referenceAllele": "G",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678506.1:c.862G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503580.1:p.Gly288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678520.1:c.*552G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503361.1:n.*552G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 942,
          "endIntronDirection": "+",
          "endIntronOffset": 1636,
          "referenceAllele": "G",
          "start": 942,
          "startIntronDirection": "+",
          "startIntronOffset": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678554.1:c.889+1636G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504541.1:n.889+1636G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 877,
          "referenceAllele": "G",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678915.1:c.769G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504805.1:p.Gly257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000679224.1:c.538G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504475.1:p.Gly180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000227266.9:c.901G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227266.4:p.Gly301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248582"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3635,
          "referenceAllele": "G",
          "start": 3634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000533897.1:n.3635G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "NM_001814.4:c.901G=",
        "LRG_50t1:c.901G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001805.3:p.Gly301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "NM_001814.5:c.901G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001805.3:p.Gly301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524917"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077709346",
      "coordinates": [
        {
          "allele": "G",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "NM_001814.6:c.901G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001805.4:p.Gly301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227266.10:c.901G="
          },
          "RefSeq": {
            "hgvs": "NM_001814.6:c.901G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227266.4:p.Gly301="
          },
          "RefSeq": {
            "hgvs": "NP_001805.4:p.Gly301="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}