{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344163427",
  "communityStandardTitle": [
    "NM_000069.3(CACNA1S):c.2977A>C (p.Ser993Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201031148T>G?assembly=hg19",
        "id": "chr1:g.201031148T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201062020T>G?assembly=hg38",
        "id": "chr1:g.201062020T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 201062020,
          "referenceAllele": "T",
          "start": 201062019
        }
      ],
      "hgvs": [
        "NC_000001.11:g.201062020T>G",
        "CM000663.2:g.201062020T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 201031148,
          "referenceAllele": "T",
          "start": 201031147
        }
      ],
      "hgvs": [
        "NC_000001.10:g.201031148T>G",
        "CM000663.1:g.201031148T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 199297771,
          "referenceAllele": "T",
          "start": 199297770
        }
      ],
      "hgvs": [
        "NC_000001.9:g.199297771T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 55547,
          "referenceAllele": "A",
          "start": 55546
        }
      ],
      "hgvs": [
        "NG_009816.1:g.55547A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001653"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 55547,
          "referenceAllele": "A",
          "start": 55546
        }
      ],
      "hgvs": [
        "NG_009816.2:g.55547A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3064,
          "referenceAllele": "A",
          "start": 3063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000362061.4:c.2977A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355192.3:p.Ser993Arg",
        "hgvsWellDefined": "ENSP00000355192.3:p.Ser993Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362061.4:c.2977A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.2977A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355192.3:p.Ser993Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000060.2:p.Ser993Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3343,
          "referenceAllele": "A",
          "start": 3342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000679417.1:c.*2140A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506706.1:n.*2140A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 103,
          "referenceAllele": "A",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000680051.1:n.103A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3090,
          "referenceAllele": "A",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000680059.1:c.*495A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504944.1:n.*495A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3064,
          "referenceAllele": "A",
          "start": 3063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681078.1:c.2977A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506645.1:p.Ser993Arg",
        "hgvsWellDefined": "ENSP00000506645.1:p.Ser993Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3064,
          "referenceAllele": "A",
          "start": 3063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681190.1:c.2977A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506428.1:p.Ser993Arg",
        "hgvsWellDefined": "ENSP00000506428.1:p.Ser993Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3004,
          "referenceAllele": "A",
          "start": 3003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681874.1:c.2917A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505162.1:p.Ser973Arg",
        "hgvsWellDefined": "ENSP00000505162.1:p.Ser973Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3204,
          "referenceAllele": "A",
          "start": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000362061.3:c.2977A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355192.3:p.Ser993Arg",
        "hgvsWellDefined": "ENSP00000355192.3:p.Ser993Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247221"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3089,
          "referenceAllele": "A",
          "start": 3088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000367338.7:c.2977A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356307.3:p.Ser993Arg",
        "hgvsWellDefined": "ENSP00000356307.3:p.Ser993Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645415988",
      "coordinates": [
        {
          "allele": "C",
          "end": 3204,
          "referenceAllele": "A",
          "start": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.2:c.2977A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Ser993Arg",
        "hgvsWellDefined": "NP_000060.2:p.Ser993Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3070,
          "referenceAllele": "A",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.2:c.2977A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Ser993Arg",
        "hgvsWellDefined": "XP_005245535.1:p.Ser993Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3091,
          "referenceAllele": "A",
          "start": 3090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.3:c.2977A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Ser993Arg",
        "hgvsWellDefined": "XP_005245535.1:p.Ser993Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645415988",
      "coordinates": [
        {
          "allele": "C",
          "end": 3064,
          "referenceAllele": "A",
          "start": 3063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.3:c.2977A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Ser993Arg",
        "hgvsWellDefined": "NP_000060.2:p.Ser993Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662308",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362061.4:c.2977A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.2977A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355192.3:p.Ser993Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000060.2:p.Ser993Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}