{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA232472840",
  "communityStandardTitle": [
    "NM_014718.4(CLSTN3):c.625A>C (p.Ser209Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.7288432A>C?assembly=hg19",
        "id": "chr12:g.7288432A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.7135836A>C?assembly=hg38",
        "id": "chr12:g.7135836A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7302230",
        "rs": 7302230
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-7288432-A-C?dataset=gnomad_r2_1",
        "id": "12-7288432-A-C",
        "variant": "12:7288432 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-7135836-A-C?dataset=gnomad_r3",
        "id": "12-7135836-A-C",
        "variant": "12:7135836 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-7135836-A-C?dataset=gnomad_r4",
        "id": "12-7135836-A-C",
        "variant": "12:7135836 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 7135836,
          "referenceAllele": "A",
          "start": 7135835
        }
      ],
      "hgvs": [
        "NC_000012.12:g.7135836A>C",
        "CM000674.2:g.7135836A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 7288432,
          "referenceAllele": "A",
          "start": 7288431
        }
      ],
      "hgvs": [
        "NC_000012.11:g.7288432A>C",
        "CM000674.1:g.7288432A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 7179699,
          "referenceAllele": "A",
          "start": 7179698
        }
      ],
      "hgvs": [
        "NC_000012.10:g.7179699A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 903,
          "referenceAllele": "A",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018371",
      "geneNCBI_id": 9746,
      "geneSymbol": "CLSTN3",
      "hgvs": [
        "ENST00000266546.11:c.625A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266546.6:p.Ser209Arg",
        "hgvsWellDefined": "ENSP00000266546.6:p.Ser209Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742945",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000266546.11:c.625A>C"
          },
          "RefSeq": {
            "hgvs": "NM_014718.4:c.625A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000266546.6:p.Ser209Arg"
          },
          "RefSeq": {
            "hgvs": "NP_055533.2:p.Ser209Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1075,
          "referenceAllele": "A",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018371",
      "geneNCBI_id": 9746,
      "geneSymbol": "CLSTN3",
      "hgvs": [
        "ENST00000266546.10:c.625A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266546.6:p.Ser209Arg",
        "hgvsWellDefined": "ENSP00000266546.6:p.Ser209Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1199,
          "referenceAllele": "A",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018371",
      "geneNCBI_id": 9746,
      "geneSymbol": "CLSTN3",
      "hgvs": [
        "ENST00000537408.1:c.661A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440679.1:p.Ser221Arg",
        "hgvsWellDefined": "ENSP00000440679.1:p.Ser221Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120,
          "referenceAllele": "A",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018371",
      "geneNCBI_id": 9746,
      "geneSymbol": "CLSTN3",
      "hgvs": [
        "ENST00000540931.1:n.120A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362664"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "referenceAllele": "A",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018371",
      "geneNCBI_id": 9746,
      "geneSymbol": "CLSTN3",
      "hgvs": [
        "ENST00000541667.5:n.352A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363050"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079272509",
      "coordinates": [
        {
          "allele": "C",
          "end": 903,
          "referenceAllele": "A",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018371",
      "geneNCBI_id": 9746,
      "geneSymbol": "CLSTN3",
      "hgvs": [
        "NM_014718.3:c.625A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055533.2:p.Ser209Arg",
        "hgvsWellDefined": "NP_055533.2:p.Ser209Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2223,
          "referenceAllele": "A",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018371",
      "geneNCBI_id": 9746,
      "geneSymbol": "CLSTN3",
      "hgvs": [
        "XM_006719163.2:c.661A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719226.1:p.Ser221Arg",
        "hgvsWellDefined": "XP_006719226.1:p.Ser221Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2230,
          "referenceAllele": "A",
          "start": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018371",
      "geneNCBI_id": 9746,
      "geneSymbol": "CLSTN3",
      "hgvs": [
        "XM_006719163.4:c.661A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719226.1:p.Ser221Arg",
        "hgvsWellDefined": "XP_006719226.1:p.Ser221Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079272509",
      "coordinates": [
        {
          "allele": "C",
          "end": 903,
          "referenceAllele": "A",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018371",
      "geneNCBI_id": 9746,
      "geneSymbol": "CLSTN3",
      "hgvs": [
        "NM_014718.4:c.625A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055533.2:p.Ser209Arg",
        "hgvsWellDefined": "NP_055533.2:p.Ser209Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697327",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000266546.11:c.625A>C"
          },
          "RefSeq": {
            "hgvs": "NM_014718.4:c.625A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000266546.6:p.Ser209Arg"
          },
          "RefSeq": {
            "hgvs": "NP_055533.2:p.Ser209Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}