{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382022024",
  "communityStandardTitle": [
    "NM_001814.6(CTSC):c.1033T>C (p.Tyr345His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2133537[alleleid]",
        "alleleId": 2133537,
        "preferredName": "NM_001814.6(CTSC):c.1033T>C (p.Tyr345His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2085948",
        "RCV": [
          "RCV003005365"
        ],
        "variationId": 2085948
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.88027533A>G?assembly=hg19",
        "id": "chr11:g.88027533A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.88294365A>G?assembly=hg38",
        "id": "chr11:g.88294365A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1422115423",
        "rs": 1422115423
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 88294365,
          "referenceAllele": "A",
          "start": 88294364
        }
      ],
      "hgvs": [
        "NC_000011.10:g.88294365A>G",
        "CM000673.2:g.88294365A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 88027533,
          "referenceAllele": "A",
          "start": 88027532
        }
      ],
      "hgvs": [
        "NC_000011.9:g.88027533A>G",
        "CM000673.1:g.88027533A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 87667181,
          "referenceAllele": "A",
          "start": 87667180
        }
      ],
      "hgvs": [
        "NC_000011.8:g.87667181A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48409,
          "referenceAllele": "T",
          "start": 48408
        }
      ],
      "hgvs": [
        "NG_007952.1:g.48409T>C",
        "LRG_50:g.48409T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1097,
          "referenceAllele": "T",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000227266.10:c.1033T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227266.4:p.Tyr345His",
        "hgvsWellDefined": "ENSP00000227266.4:p.Tyr345His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740719",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227266.10:c.1033T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001814.6:c.1033T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227266.4:p.Tyr345His"
          },
          "RefSeq": {
            "hgvs": "NP_001805.4:p.Tyr345His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5346,
          "referenceAllele": "T",
          "start": 5345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000533897.2:n.5346T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759366"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1055,
          "referenceAllele": "T",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000676612.1:c.*840T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504440.1:n.*840T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 889,
          "referenceAllele": "T",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000677208.1:c.*539T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504347.1:n.*539T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1695,
          "referenceAllele": "T",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000677661.1:c.*710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503323.1:n.*710T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1184,
          "referenceAllele": "T",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000677802.1:c.*710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504115.1:n.*710T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1029,
          "referenceAllele": "T",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678395.1:c.*539T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503123.1:n.*539T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778042"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "referenceAllele": "T",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678464.1:c.1000T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503046.1:p.Tyr334His",
        "hgvsWellDefined": "ENSP00000503046.1:p.Tyr334His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778109"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1094,
          "referenceAllele": "T",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678506.1:c.994T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503580.1:p.Tyr332His",
        "hgvsWellDefined": "ENSP00000503580.1:p.Tyr332His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 837,
          "referenceAllele": "T",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678520.1:c.*684T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503361.1:n.*684T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 942,
          "endIntronDirection": "+",
          "endIntronOffset": 1768,
          "referenceAllele": "T",
          "start": 942,
          "startIntronDirection": "+",
          "startIntronOffset": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678554.1:c.889+1768T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504541.1:n.889+1768T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1009,
          "referenceAllele": "T",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678915.1:c.901T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504805.1:p.Tyr301His",
        "hgvsWellDefined": "ENSP00000504805.1:p.Tyr301His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 903,
          "referenceAllele": "T",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000679224.1:c.670T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504475.1:p.Tyr224His",
        "hgvsWellDefined": "ENSP00000504475.1:p.Tyr224His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1148,
          "referenceAllele": "T",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000227266.9:c.1033T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227266.4:p.Tyr345His",
        "hgvsWellDefined": "ENSP00000227266.4:p.Tyr345His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3767,
          "referenceAllele": "T",
          "start": 3766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000533897.1:n.3767T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358602"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1134,
          "referenceAllele": "T",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "NM_001814.4:c.1033T>C",
        "LRG_50t1:c.1033T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001805.3:p.Tyr345His",
        "hgvsWellDefined": "NP_001805.3:p.Tyr345His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1148,
          "referenceAllele": "T",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "NM_001814.5:c.1033T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001805.3:p.Tyr345His",
        "hgvsWellDefined": "NP_001805.3:p.Tyr345His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524917"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580258185",
      "coordinates": [
        {
          "allele": "C",
          "end": 1097,
          "referenceAllele": "T",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "NM_001814.6:c.1033T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001805.4:p.Tyr345His",
        "hgvsWellDefined": "NP_001805.4:p.Tyr345His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227266.10:c.1033T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001814.6:c.1033T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227266.4:p.Tyr345His"
          },
          "RefSeq": {
            "hgvs": "NP_001805.4:p.Tyr345His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}