{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119533",
  "communityStandardTitle": [
    "NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3121288",
        "active": true,
        "id": "COSM3121288"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23389[alleleid]",
        "alleleId": 23389,
        "preferredName": "NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8350",
        "RCV": [
          "RCV000008855",
          "RCV000414467",
          "RCV001804717",
          "RCV001851749",
          "RCV003343599",
          "RCV004554590"
        ],
        "variationId": 8350
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.122002611G>A?assembly=hg19",
        "id": "chr3:g.122002611G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.122283764G>A?assembly=hg38",
        "id": "chr3:g.122283764G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893712",
        "rs": 104893712
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 122283764,
          "referenceAllele": "G",
          "start": 122283763
        }
      ],
      "hgvs": [
        "NC_000003.12:g.122283764G>A",
        "CM000665.2:g.122283764G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 122002611,
          "referenceAllele": "G",
          "start": 122002610
        }
      ],
      "hgvs": [
        "NC_000003.11:g.122002611G>A",
        "CM000665.1:g.122002611G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 123485301,
          "referenceAllele": "G",
          "start": 123485300
        }
      ],
      "hgvs": [
        "NC_000003.10:g.123485301G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 105082,
          "referenceAllele": "G",
          "start": 105081
        }
      ],
      "hgvs": [
        "NG_009058.1:g.105082G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 105097,
          "referenceAllele": "G",
          "start": 105096
        }
      ],
      "hgvs": [
        "NG_009058.2:g.105097G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706091"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1821,
          "referenceAllele": "G",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000490131.7:c.1579G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418685.2:p.Glu527Lys",
        "hgvsWellDefined": "ENSP00000418685.2:p.Glu527Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2278,
          "referenceAllele": "G",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000498619.4:c.1840G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420194.1:p.Glu614Lys",
        "hgvsWellDefined": "ENSP00000420194.1:p.Glu614Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2349,
          "referenceAllele": "G",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000638421.1:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492190.1:p.Glu604Lys",
        "hgvsWellDefined": "ENSP00000492190.1:p.Glu604Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2197,
          "referenceAllele": "G",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000639785.2:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491584.2:p.Glu604Lys",
        "hgvsWellDefined": "ENSP00000491584.2:p.Glu604Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765173",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639785.2:c.1810G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000388.4:c.1810G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000491584.2:p.Glu604Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000379.3:p.Glu604Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2182,
          "referenceAllele": "G",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000490131.5:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418685.1:p.Glu604Lys",
        "hgvsWellDefined": "ENSP00000418685.1:p.Glu604Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2278,
          "referenceAllele": "G",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000498619.2:c.1840G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420194.1:p.Glu614Lys",
        "hgvsWellDefined": "ENSP00000420194.1:p.Glu614Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334587"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119534",
      "coordinates": [
        {
          "allele": "A",
          "end": 2182,
          "referenceAllele": "G",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_000388.3:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000379.2:p.Glu604Lys",
        "hgvsWellDefined": "NP_000379.2:p.Glu604Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2278,
          "referenceAllele": "G",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_001178065.1:c.1840G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171536.1:p.Glu614Lys",
        "hgvsWellDefined": "NP_001171536.1:p.Glu614Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2416,
          "referenceAllele": "G",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_005247836.2:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247893.1:p.Glu604Lys",
        "hgvsWellDefined": "XP_005247893.1:p.Glu604Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1412,
          "referenceAllele": "G",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_005247837.2:c.1327G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247894.1:p.Glu443Lys",
        "hgvsWellDefined": "XP_005247894.1:p.Glu443Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2267,
          "referenceAllele": "G",
          "start": 2266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_006713789.2:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713852.1:p.Glu604Lys",
        "hgvsWellDefined": "XP_006713852.1:p.Glu604Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4287,
          "referenceAllele": "G",
          "start": 4286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_011513237.1:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511539.1:p.Glu604Lys",
        "hgvsWellDefined": "XP_011511539.1:p.Glu604Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4218,
          "referenceAllele": "G",
          "start": 4217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_011513238.1:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511540.1:p.Glu604Lys",
        "hgvsWellDefined": "XP_011511540.1:p.Glu604Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1405,
          "referenceAllele": "G",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_011513239.1:c.1222G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511541.1:p.Glu408Lys",
        "hgvsWellDefined": "XP_011511541.1:p.Glu408Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2763,
          "referenceAllele": "G",
          "start": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_006713789.3:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713852.1:p.Glu604Lys",
        "hgvsWellDefined": "XP_006713852.1:p.Glu604Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4128,
          "referenceAllele": "G",
          "start": 4127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_017007324.1:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862813.1:p.Glu604Lys",
        "hgvsWellDefined": "XP_016862813.1:p.Glu604Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2154,
          "referenceAllele": "G",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_017007325.1:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862814.1:p.Glu604Lys",
        "hgvsWellDefined": "XP_016862814.1:p.Glu604Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825152737",
      "coordinates": [
        {
          "allele": "A",
          "end": 2197,
          "referenceAllele": "G",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_000388.4:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000379.3:p.Glu604Lys",
        "hgvsWellDefined": "NP_000379.3:p.Glu604Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639785.2:c.1810G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000388.4:c.1810G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000491584.2:p.Glu604Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000379.3:p.Glu604Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915995130",
      "coordinates": [
        {
          "allele": "A",
          "end": 2285,
          "referenceAllele": "G",
          "start": 2284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_001178065.2:c.1840G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171536.2:p.Glu614Lys",
        "hgvsWellDefined": "NP_001171536.2:p.Glu614Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678929"
    }
  ],
  "type": "nucleotide"
}