{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA204999",
  "communityStandardTitle": [
    "NM_001029.5(RPS26):c.4-2A>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=185741[alleleid]",
        "alleleId": 185741,
        "preferredName": "NM_001029.5(RPS26):c.4-2A>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187850",
        "RCV": [
          "RCV000167575",
          "RCV000191913"
        ],
        "variationId": 187850
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.56436207A>T?assembly=hg19",
        "id": "chr12:g.56436207A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.56042423A>T?assembly=hg38",
        "id": "chr12:g.56042423A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786203998",
        "rs": 786203998
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 56042423,
          "referenceAllele": "A",
          "start": 56042422
        }
      ],
      "hgvs": [
        "NC_000012.12:g.56042423A>T",
        "CM000674.2:g.56042423A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 56436207,
          "referenceAllele": "A",
          "start": 56436206
        }
      ],
      "hgvs": [
        "NC_000012.11:g.56436207A>T",
        "CM000674.1:g.56436207A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 54722474,
          "referenceAllele": "A",
          "start": 54722473
        }
      ],
      "hgvs": [
        "NC_000012.10:g.54722474A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5522,
          "referenceAllele": "A",
          "start": 5521
        }
      ],
      "hgvs": [
        "NG_023201.1:g.5522A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003711"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 405,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 405,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010414",
      "geneNCBI_id": 6231,
      "geneSymbol": "RPS26",
      "hgvs": [
        "ENST00000356464.10:c.4-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348849.5:n.4-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 252,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010414",
      "geneNCBI_id": 6231,
      "geneSymbol": "RPS26",
      "hgvs": [
        "ENST00000646449.2:c.4-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496643.1:n.4-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768882",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646449.2:c.4-2A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001029.5:c.4-2A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496643.1:n.4-2A>T"
          },
          "RefSeq": {
            "hgvs": "NP_001020.2:n.4-2A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 317,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010414",
      "geneNCBI_id": 6231,
      "geneSymbol": "RPS26",
      "hgvs": [
        "ENST00000356464.9:c.4-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348849.5:n.4-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 30,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010414",
      "geneNCBI_id": 6231,
      "geneSymbol": "RPS26",
      "hgvs": [
        "ENST00000548590.1:n.31-2A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 209,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 209,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010414",
      "geneNCBI_id": 6231,
      "geneSymbol": "RPS26",
      "hgvs": [
        "ENST00000552361.1:c.4-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450339.1:n.4-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 268,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 268,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010414",
      "geneNCBI_id": 6231,
      "geneSymbol": "RPS26",
      "hgvs": [
        "NM_001029.3:c.4-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020.2:n.4-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 252,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010414",
      "geneNCBI_id": 6231,
      "geneSymbol": "RPS26",
      "hgvs": [
        "NM_001029.5:c.4-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020.2:n.4-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511082",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646449.2:c.4-2A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001029.5:c.4-2A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496643.1:n.4-2A>T"
          },
          "RefSeq": {
            "hgvs": "NP_001020.2:n.4-2A>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}