{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA435404097",
  "communityStandardTitle": [
    "NM_000388.4(CASR):c.375T>C (p.Leu125=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.121976117T>C?assembly=hg19",
        "id": "chr3:g.121976117T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 122257270,
          "referenceAllele": "T",
          "start": 122257269
        }
      ],
      "hgvs": [
        "NC_000003.12:g.122257270T>C",
        "CM000665.2:g.122257270T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 121976117,
          "referenceAllele": "T",
          "start": 121976116
        }
      ],
      "hgvs": [
        "NC_000003.11:g.121976117T>C",
        "CM000665.1:g.121976117T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 123458807,
          "referenceAllele": "T",
          "start": 123458806
        }
      ],
      "hgvs": [
        "NC_000003.10:g.123458807T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78588,
          "referenceAllele": "T",
          "start": 78587
        }
      ],
      "hgvs": [
        "NG_009058.1:g.78588T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78603,
          "referenceAllele": "T",
          "start": 78602
        }
      ],
      "hgvs": [
        "NG_009058.2:g.78603T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706091"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 617,
          "referenceAllele": "T",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000490131.7:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418685.2:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 813,
          "referenceAllele": "T",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000498619.4:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420194.1:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757906"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 294,
          "referenceAllele": "T",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000638296.1:n.294T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 914,
          "referenceAllele": "T",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000638421.1:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492190.1:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 762,
          "referenceAllele": "T",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000639785.2:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491584.2:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765173",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639785.2:c.375T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000388.4:c.375T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000491584.2:p.Leu125="
          },
          "RefSeq": {
            "hgvs": "NP_000379.3:p.Leu125="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 747,
          "referenceAllele": "T",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000490131.5:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418685.1:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 234,
          "referenceAllele": "T",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000490186.1:n.234T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 813,
          "referenceAllele": "T",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000498619.2:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420194.1:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 747,
          "referenceAllele": "T",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_000388.3:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000379.2:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 813,
          "referenceAllele": "T",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_001178065.1:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171536.1:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015837"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "referenceAllele": "T",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_005247836.2:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247893.1:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 94,
          "endIntronDirection": "+",
          "endIntronOffset": 2896,
          "referenceAllele": "T",
          "start": 94,
          "startIntronDirection": "+",
          "startIntronOffset": 2895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_005247837.2:c.9+2896T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247894.1:n.9+2896T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 832,
          "referenceAllele": "T",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_006713789.2:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713852.1:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2852,
          "referenceAllele": "T",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_011513237.1:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511539.1:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2783,
          "referenceAllele": "T",
          "start": 2782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_011513238.1:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511540.1:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1328,
          "referenceAllele": "T",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_006713789.3:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713852.1:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2693,
          "referenceAllele": "T",
          "start": 2692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_017007324.1:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862813.1:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562107"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "T",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_017007325.1:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862814.1:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825151026",
      "coordinates": [
        {
          "allele": "C",
          "end": 762,
          "referenceAllele": "T",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_000388.4:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000379.3:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639785.2:c.375T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000388.4:c.375T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000491584.2:p.Leu125="
          },
          "RefSeq": {
            "hgvs": "NP_000379.3:p.Leu125="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826135873",
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "T",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_001178065.2:c.375T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171536.2:p.Leu125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678929"
    }
  ],
  "type": "nucleotide"
}