{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2569464",
  "communityStandardTitle": [
    "NM_000388.4(CASR):c.372C>T (p.Asn124=)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-121976114-C-T",
        "id": "3-121976114-C-T",
        "variant": "3:121976114 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.121976114C>T?assembly=hg19",
        "id": "chr3:g.121976114C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.122257267C>T?assembly=hg38",
        "id": "chr3:g.122257267C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757571398",
        "rs": 757571398
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-121976114-C-T?dataset=gnomad_r2_1",
        "id": "3-121976114-C-T",
        "variant": "3:121976114 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-122257267-C-T?dataset=gnomad_r4",
        "id": "3-122257267-C-T",
        "variant": "3:122257267 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 122257267,
          "referenceAllele": "C",
          "start": 122257266
        }
      ],
      "hgvs": [
        "NC_000003.12:g.122257267C>T",
        "CM000665.2:g.122257267C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 121976114,
          "referenceAllele": "C",
          "start": 121976113
        }
      ],
      "hgvs": [
        "NC_000003.11:g.121976114C>T",
        "CM000665.1:g.121976114C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 123458804,
          "referenceAllele": "C",
          "start": 123458803
        }
      ],
      "hgvs": [
        "NC_000003.10:g.123458804C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 78585,
          "referenceAllele": "C",
          "start": 78584
        }
      ],
      "hgvs": [
        "NG_009058.1:g.78585C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 78600,
          "referenceAllele": "C",
          "start": 78599
        }
      ],
      "hgvs": [
        "NG_009058.2:g.78600C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706091"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "referenceAllele": "C",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000490131.7:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418685.2:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000498619.4:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420194.1:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 291,
          "referenceAllele": "C",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000638296.1:n.291C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000638421.1:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492190.1:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000639785.2:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491584.2:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765173",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639785.2:c.372C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000388.4:c.372C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000491584.2:p.Asn124="
          },
          "RefSeq": {
            "hgvs": "NP_000379.3:p.Asn124="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000490131.5:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418685.1:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 231,
          "referenceAllele": "C",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000490186.1:n.231C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000498619.2:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420194.1:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_000388.3:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000379.2:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_001178065.1:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171536.1:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 978,
          "referenceAllele": "C",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_005247836.2:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247893.1:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "endIntronDirection": "+",
          "endIntronOffset": 2893,
          "referenceAllele": "C",
          "start": 94,
          "startIntronDirection": "+",
          "startIntronOffset": 2892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_005247837.2:c.9+2893C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247894.1:n.9+2893C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_006713789.2:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713852.1:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2849,
          "referenceAllele": "C",
          "start": 2848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_011513237.1:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511539.1:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2780,
          "referenceAllele": "C",
          "start": 2779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_011513238.1:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511540.1:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1325,
          "referenceAllele": "C",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_006713789.3:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713852.1:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2690,
          "referenceAllele": "C",
          "start": 2689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_017007324.1:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862813.1:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_017007325.1:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862814.1:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068669931",
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_000388.4:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000379.3:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639785.2:c.372C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000388.4:c.372C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000491584.2:p.Asn124="
          },
          "RefSeq": {
            "hgvs": "NP_000379.3:p.Asn124="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "referenceAllele": "C",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_001178065.2:c.372C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171536.2:p.Asn124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678929"
    }
  ],
  "type": "nucleotide"
}