{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA321330050",
  "communityStandardTitle": [
    "NM_173354.5(SIK1):c.43G>A (p.Gly15Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3758922"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=577899[alleleid]",
        "alleleId": 577899,
        "preferredName": "NM_173354.5(SIK1):c.43G>A (p.Gly15Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/586588",
        "RCV": [
          "RCV001522240",
          "RCV000713292",
          "RCV002312252"
        ],
        "variationId": 586588
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.43426136C>T?assembly=hg38",
        "id": "chr21:g.43426136C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3746951",
        "rs": 3746951
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 43426136,
          "referenceAllele": "C",
          "start": 43426135
        }
      ],
      "hgvs": [
        "NC_000021.9:g.43426136C>T",
        "CM000683.2:g.43426136C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5997,
          "referenceAllele": "G",
          "start": 5996
        }
      ],
      "hgvs": [
        "NG_052009.1:g.5997G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617122"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "referenceAllele": "G",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "ENST00000270162.8:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270162.6:p.Gly15Ser",
        "hgvsWellDefined": "ENSP00000270162.6:p.Gly15Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743146",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270162.8:c.43G>A"
          },
          "RefSeq": {
            "hgvs": "NM_173354.5:c.43G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270162.6:p.Gly15Ser"
          },
          "RefSeq": {
            "hgvs": "NP_775490.2:p.Gly15Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 140,
          "referenceAllele": "G",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "ENST00000644276.1:n.140G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111,
          "referenceAllele": "G",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "ENST00000644750.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495479.1:p.Gly15Ser",
        "hgvsWellDefined": "ENSP00000495479.1:p.Gly15Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767975"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 176,
          "referenceAllele": "G",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "ENST00000270162.6:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270162.6:p.Gly15Ser",
        "hgvsWellDefined": "ENSP00000270162.6:p.Gly15Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891858663",
      "coordinates": [
        {
          "allele": "A",
          "end": 170,
          "referenceAllele": "G",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "NM_173354.3:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775490.2:p.Gly15Ser",
        "hgvsWellDefined": "NP_775490.2:p.Gly15Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042822"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 174,
          "referenceAllele": "G",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "XM_011529474.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527776.1:p.Gly15Ser",
        "hgvsWellDefined": "XP_011527776.1:p.Gly15Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891858663",
      "coordinates": [
        {
          "allele": "A",
          "end": 180,
          "referenceAllele": "G",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "NM_173354.4:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775490.2:p.Gly15Ser",
        "hgvsWellDefined": "NP_775490.2:p.Gly15Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 174,
          "referenceAllele": "G",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "XM_011529474.2:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527776.1:p.Gly15Ser",
        "hgvsWellDefined": "XP_011527776.1:p.Gly15Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549516"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891858663",
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "referenceAllele": "G",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011142",
      "geneNCBI_id": 150094,
      "geneSymbol": "SIK1",
      "hgvs": [
        "NM_173354.5:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775490.2:p.Gly15Ser",
        "hgvsWellDefined": "NP_775490.2:p.Gly15Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700580",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270162.8:c.43G>A"
          },
          "RefSeq": {
            "hgvs": "NM_173354.5:c.43G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270162.6:p.Gly15Ser"
          },
          "RefSeq": {
            "hgvs": "NP_775490.2:p.Gly15Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}