{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2026936852",
  "communityStandardTitle": [
    "NM_032834.4(ALG10):c.1339G= (p.Val447=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908850",
        "rs": 121908850
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 34026832,
          "referenceAllele": "G",
          "start": 34026831
        }
      ],
      "hgvs": [
        "NC_000012.12:g.34026832G=",
        "CM000674.2:g.34026832G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 34179767,
          "referenceAllele": "G",
          "start": 34179766
        }
      ],
      "hgvs": [
        "NC_000012.11:g.34179767G=",
        "CM000674.1:g.34179767G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 34071034,
          "referenceAllele": "G",
          "start": 34071033
        }
      ],
      "hgvs": [
        "NC_000012.10:g.34071034G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9552,
          "referenceAllele": "G",
          "start": 9551
        }
      ],
      "hgvs": [
        "NG_016389.1:g.9552G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003149"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1443,
          "referenceAllele": "G",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023162",
      "geneNCBI_id": 84920,
      "geneSymbol": "ALG10",
      "hgvs": [
        "ENST00000266483.7:c.1339G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266483.2:p.Val447="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742936",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000266483.7:c.1339G="
          },
          "RefSeq": {
            "hgvs": "NM_032834.4:c.1339G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000266483.2:p.Val447="
          },
          "RefSeq": {
            "hgvs": "NP_116223.3:p.Val447="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1658,
          "referenceAllele": "G",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023162",
      "geneNCBI_id": 84920,
      "geneSymbol": "ALG10",
      "hgvs": [
        "ENST00000266483.6:c.1339G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266483.2:p.Val447="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "endIntronDirection": "+",
          "endIntronOffset": 2673,
          "referenceAllele": "G",
          "start": 501,
          "startIntronDirection": "+",
          "startIntronOffset": 2672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023162",
      "geneNCBI_id": 84920,
      "geneSymbol": "ALG10",
      "hgvs": [
        "ENST00000538927.1:c.369+2673G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444084.1:n.369+2673G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1440,
          "referenceAllele": "G",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023162",
      "geneNCBI_id": 84920,
      "geneSymbol": "ALG10",
      "hgvs": [
        "ENST00000541875.1:c.*1079G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443142.1:n.*1079G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079290049",
      "coordinates": [
        {
          "allele": "G",
          "end": 1658,
          "referenceAllele": "G",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023162",
      "geneNCBI_id": 84920,
      "geneSymbol": "ALG10",
      "hgvs": [
        "NM_032834.3:c.1339G="
      ],
      "proteinEffect": {
        "hgvs": "NP_116223.3:p.Val447="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1329,
          "referenceAllele": "G",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023162",
      "geneNCBI_id": 84920,
      "geneSymbol": "ALG10",
      "hgvs": [
        "XM_024449230.1:c.1159G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304998.1:p.Val387="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582788"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023162",
      "geneNCBI_id": 84920,
      "geneSymbol": "ALG10",
      "hgvs": [
        "XM_024449231.1:c.1159G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304999.1:p.Val387="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079290049",
      "coordinates": [
        {
          "allele": "G",
          "end": 1443,
          "referenceAllele": "G",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023162",
      "geneNCBI_id": 84920,
      "geneSymbol": "ALG10",
      "hgvs": [
        "NM_032834.4:c.1339G="
      ],
      "proteinEffect": {
        "hgvs": "NP_116223.3:p.Val447="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671426",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000266483.7:c.1339G="
          },
          "RefSeq": {
            "hgvs": "NM_032834.4:c.1339G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000266483.2:p.Val447="
          },
          "RefSeq": {
            "hgvs": "NP_116223.3:p.Val447="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}