{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118701",
  "communityStandardTitle": [
    "NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22340[alleleid]",
        "alleleId": 22340,
        "preferredName": "NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7301",
        "RCV": [
          "RCV000007724",
          "RCV000128617",
          "RCV002512877"
        ],
        "variationId": 7301
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.88027526T>C?assembly=hg19",
        "id": "chr11:g.88027526T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.88294358T>C?assembly=hg38",
        "id": "chr11:g.88294358T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894211",
        "rs": 104894211
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-88027526-T-C?dataset=gnomad_r2_1",
        "id": "11-88027526-T-C",
        "variant": "11:88027526 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-88294358-T-C?dataset=gnomad_r4",
        "id": "11-88294358-T-C",
        "variant": "11:88294358 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 88294358,
          "referenceAllele": "T",
          "start": 88294357
        }
      ],
      "hgvs": [
        "NC_000011.10:g.88294358T>C",
        "CM000673.2:g.88294358T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 88027526,
          "referenceAllele": "T",
          "start": 88027525
        }
      ],
      "hgvs": [
        "NC_000011.9:g.88027526T>C",
        "CM000673.1:g.88027526T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 87667174,
          "referenceAllele": "T",
          "start": 87667173
        }
      ],
      "hgvs": [
        "NC_000011.8:g.87667174T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48416,
          "referenceAllele": "A",
          "start": 48415
        }
      ],
      "hgvs": [
        "NG_007952.1:g.48416A>G",
        "LRG_50:g.48416A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "referenceAllele": "A",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000227266.10:c.1040A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227266.4:p.Tyr347Cys",
        "hgvsWellDefined": "ENSP00000227266.4:p.Tyr347Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740719",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227266.10:c.1040A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001814.6:c.1040A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227266.4:p.Tyr347Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001805.4:p.Tyr347Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5353,
          "referenceAllele": "A",
          "start": 5352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000533897.2:n.5353A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1062,
          "referenceAllele": "A",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000676612.1:c.*847A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504440.1:n.*847A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 896,
          "referenceAllele": "A",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000677208.1:c.*546A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504347.1:n.*546A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776871"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1702,
          "referenceAllele": "A",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000677661.1:c.*717A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503323.1:n.*717A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000677802.1:c.*717A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504115.1:n.*717A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1036,
          "referenceAllele": "A",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678395.1:c.*546A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503123.1:n.*546A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1071,
          "referenceAllele": "A",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678464.1:c.1007A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503046.1:p.Tyr336Cys",
        "hgvsWellDefined": "ENSP00000503046.1:p.Tyr336Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778109"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1101,
          "referenceAllele": "A",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678506.1:c.1001A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503580.1:p.Tyr334Cys",
        "hgvsWellDefined": "ENSP00000503580.1:p.Tyr334Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 844,
          "referenceAllele": "A",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678520.1:c.*691A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503361.1:n.*691A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 942,
          "endIntronDirection": "+",
          "endIntronOffset": 1775,
          "referenceAllele": "A",
          "start": 942,
          "startIntronDirection": "+",
          "startIntronOffset": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678554.1:c.889+1775A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504541.1:n.889+1775A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "referenceAllele": "A",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000678915.1:c.908A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504805.1:p.Tyr303Cys",
        "hgvsWellDefined": "ENSP00000504805.1:p.Tyr303Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 910,
          "referenceAllele": "A",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000679224.1:c.677A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504475.1:p.Tyr226Cys",
        "hgvsWellDefined": "ENSP00000504475.1:p.Tyr226Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "A",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000227266.9:c.1040A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227266.4:p.Tyr347Cys",
        "hgvsWellDefined": "ENSP00000227266.4:p.Tyr347Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248582"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3774,
          "referenceAllele": "A",
          "start": 3773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "ENST00000533897.1:n.3774A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118703",
      "coordinates": [
        {
          "allele": "G",
          "end": 1141,
          "referenceAllele": "A",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "NM_001814.4:c.1040A>G",
        "LRG_50t1:c.1040A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001805.3:p.Tyr347Cys",
        "hgvsWellDefined": "NP_001805.3:p.Tyr347Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027144"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118703",
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "A",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "NM_001814.5:c.1040A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001805.3:p.Tyr347Cys",
        "hgvsWellDefined": "NP_001805.3:p.Tyr347Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524917"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915970277",
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "referenceAllele": "A",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "NM_001814.6:c.1040A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001805.4:p.Tyr347Cys",
        "hgvsWellDefined": "NP_001805.4:p.Tyr347Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227266.10:c.1040A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001814.6:c.1040A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227266.4:p.Tyr347Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001805.4:p.Tyr347Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}