{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2391216490",
  "communityStandardTitle": [
    "NM_173354.5(SIK1):c.1906G= (p.Gly636=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205163",
        "rs": 786205163
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 43417613,
          "referenceAllele": "C",
          "start": 43417612
        }
      ],
      "hgvs": [
        "NC_000021.9:g.43417613C=",
        "CM000683.2:g.43417613C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14520,
          "referenceAllele": "G",
          "start": 14519
        }
      ],
      "hgvs": [
        "NG_052009.1:g.14520G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617122"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2042,
          "referenceAllele": "G",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "ENST00000270162.8:c.1906G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270162.6:p.Gly636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743146",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270162.8:c.1906G="
          },
          "RefSeq": {
            "hgvs": "NM_173354.5:c.1906G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270162.6:p.Gly636="
          },
          "RefSeq": {
            "hgvs": "NP_775490.2:p.Gly636="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2039,
          "referenceAllele": "G",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "ENST00000270162.6:c.1906G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270162.6:p.Gly636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830358445",
      "coordinates": [
        {
          "allele": "G",
          "end": 2033,
          "referenceAllele": "G",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "NM_173354.3:c.1906G="
      ],
      "proteinEffect": {
        "hgvs": "NP_775490.2:p.Gly636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1890,
          "referenceAllele": "G",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "XM_011529474.1:c.1759G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527776.1:p.Gly587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830358445",
      "coordinates": [
        {
          "allele": "G",
          "end": 2043,
          "referenceAllele": "G",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "NM_173354.4:c.1906G="
      ],
      "proteinEffect": {
        "hgvs": "NP_775490.2:p.Gly636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1890,
          "referenceAllele": "G",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "XM_011529474.2:c.1759G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527776.1:p.Gly587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549516"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830358445",
      "coordinates": [
        {
          "allele": "G",
          "end": 2042,
          "referenceAllele": "G",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "NM_173354.5:c.1906G="
      ],
      "proteinEffect": {
        "hgvs": "NP_775490.2:p.Gly636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700580",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270162.8:c.1906G="
          },
          "RefSeq": {
            "hgvs": "NM_173354.5:c.1906G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270162.6:p.Gly636="
          },
          "RefSeq": {
            "hgvs": "NP_775490.2:p.Gly636="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}