{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354362504",
  "communityStandardTitle": [
    "NM_000388.4(CASR):c.256G>C (p.Ala86Pro)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.121975998G>C?assembly=hg19",
        "id": "chr3:g.121975998G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.122257151G>C?assembly=hg38",
        "id": "chr3:g.122257151G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 122257151,
          "referenceAllele": "G",
          "start": 122257150
        }
      ],
      "hgvs": [
        "NC_000003.12:g.122257151G>C",
        "CM000665.2:g.122257151G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 121975998,
          "referenceAllele": "G",
          "start": 121975997
        }
      ],
      "hgvs": [
        "NC_000003.11:g.121975998G>C",
        "CM000665.1:g.121975998G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 123458688,
          "referenceAllele": "G",
          "start": 123458687
        }
      ],
      "hgvs": [
        "NC_000003.10:g.123458688G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78469,
          "referenceAllele": "G",
          "start": 78468
        }
      ],
      "hgvs": [
        "NG_009058.1:g.78469G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78484,
          "referenceAllele": "G",
          "start": 78483
        }
      ],
      "hgvs": [
        "NG_009058.2:g.78484G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706091"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 498,
          "referenceAllele": "G",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000490131.7:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418685.2:p.Ala86Pro",
        "hgvsWellDefined": "ENSP00000418685.2:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000498619.4:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420194.1:p.Ala86Pro",
        "hgvsWellDefined": "ENSP00000420194.1:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757906"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 175,
          "referenceAllele": "G",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000638296.1:n.175G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 795,
          "referenceAllele": "G",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000638421.1:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492190.1:p.Ala86Pro",
        "hgvsWellDefined": "ENSP00000492190.1:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000639785.2:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491584.2:p.Ala86Pro",
        "hgvsWellDefined": "ENSP00000491584.2:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765173",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639785.2:c.256G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000388.4:c.256G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000491584.2:p.Ala86Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000379.3:p.Ala86Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 628,
          "referenceAllele": "G",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000490131.5:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418685.1:p.Ala86Pro",
        "hgvsWellDefined": "ENSP00000418685.1:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 115,
          "referenceAllele": "G",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000490186.1:n.115G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000498619.2:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420194.1:p.Ala86Pro",
        "hgvsWellDefined": "ENSP00000420194.1:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 628,
          "referenceAllele": "G",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_000388.3:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000379.2:p.Ala86Pro",
        "hgvsWellDefined": "NP_000379.2:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_001178065.1:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171536.1:p.Ala86Pro",
        "hgvsWellDefined": "NP_001171536.1:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015837"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_005247836.2:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247893.1:p.Ala86Pro",
        "hgvsWellDefined": "XP_005247893.1:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 94,
          "endIntronDirection": "+",
          "endIntronOffset": 2777,
          "referenceAllele": "G",
          "start": 94,
          "startIntronDirection": "+",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_005247837.2:c.9+2777G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247894.1:n.9+2777G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 713,
          "referenceAllele": "G",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_006713789.2:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713852.1:p.Ala86Pro",
        "hgvsWellDefined": "XP_006713852.1:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2733,
          "referenceAllele": "G",
          "start": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_011513237.1:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511539.1:p.Ala86Pro",
        "hgvsWellDefined": "XP_011511539.1:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2664,
          "referenceAllele": "G",
          "start": 2663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_011513238.1:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511540.1:p.Ala86Pro",
        "hgvsWellDefined": "XP_011511540.1:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1209,
          "referenceAllele": "G",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_006713789.3:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713852.1:p.Ala86Pro",
        "hgvsWellDefined": "XP_006713852.1:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2574,
          "referenceAllele": "G",
          "start": 2573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_017007324.1:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862813.1:p.Ala86Pro",
        "hgvsWellDefined": "XP_016862813.1:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562107"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_017007325.1:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862814.1:p.Ala86Pro",
        "hgvsWellDefined": "XP_016862814.1:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_000388.4:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000379.3:p.Ala86Pro",
        "hgvsWellDefined": "NP_000379.3:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639785.2:c.256G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000388.4:c.256G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000491584.2:p.Ala86Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000379.3:p.Ala86Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 701,
          "referenceAllele": "G",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_001178065.2:c.256G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171536.2:p.Ala86Pro",
        "hgvsWellDefined": "NP_001171536.2:p.Ala86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678929"
    }
  ],
  "type": "nucleotide"
}