{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2284983272",
  "communityStandardTitle": [
    "NM_182978.4(GNAL):c.1291G= (p.Val431=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794741",
        "rs": 1064794741
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 11881049,
          "referenceAllele": "G",
          "start": 11881048
        }
      ],
      "hgvs": [
        "NC_000018.10:g.11881049G=",
        "CM000680.2:g.11881049G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 11881048,
          "referenceAllele": "G",
          "start": 11881047
        }
      ],
      "hgvs": [
        "NC_000018.9:g.11881048G=",
        "CM000680.1:g.11881048G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 11871048,
          "referenceAllele": "G",
          "start": 11871047
        }
      ],
      "hgvs": [
        "NC_000018.8:g.11871048G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 197035,
          "referenceAllele": "G",
          "start": 197034
        }
      ],
      "hgvs": [
        "NG_033866.1:g.197035G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005553"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1591,
          "referenceAllele": "G",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000334049.11:c.1291G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334051.5:p.Val431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000334049.11:c.1291G="
          },
          "RefSeq": {
            "hgvs": "NM_182978.4:c.1291G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334051.5:p.Val431="
          },
          "RefSeq": {
            "hgvs": "NP_892023.1:p.Val431="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1409,
          "referenceAllele": "G",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000423027.8:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408489.2:p.Val354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754956",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423027.8:c.1060G="
          },
          "RefSeq": {
            "hgvs": "NM_001369387.1:c.1060G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000408489.2:p.Val354="
          },
          "RefSeq": {
            "hgvs": "NP_001356316.1:p.Val354="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1361,
          "referenceAllele": "G",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000269162.9:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269162.4:p.Val354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1899,
          "referenceAllele": "G",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000334049.10:c.1291G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334051.5:p.Val431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259815"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1381,
          "referenceAllele": "G",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000423027.7:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408489.2:p.Val354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1199,
          "referenceAllele": "G",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000535121.5:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439023.1:p.Val354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "G",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000602628.1:c.439G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473600.1:p.Val147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1397,
          "referenceAllele": "G",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001142339.2:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001135811.1:p.Val354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1199,
          "referenceAllele": "G",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001261443.1:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001248372.1:p.Val354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001261444.1:c.439G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001248373.1:p.Val147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085600362",
      "coordinates": [
        {
          "allele": "G",
          "end": 1840,
          "referenceAllele": "G",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_182978.3:c.1291G="
      ],
      "proteinEffect": {
        "hgvs": "NP_892023.1:p.Val431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1198,
          "referenceAllele": "G",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "XM_006722323.2:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006722386.1:p.Val354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1364,
          "referenceAllele": "G",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "XM_011525654.1:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523956.1:p.Val354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1878,
          "referenceAllele": "G",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "XM_024451164.1:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306932.1:p.Val354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085600362",
      "coordinates": [
        {
          "allele": "G",
          "end": 1591,
          "referenceAllele": "G",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_182978.4:c.1291G="
      ],
      "proteinEffect": {
        "hgvs": "NP_892023.1:p.Val431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673042",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000334049.11:c.1291G="
          },
          "RefSeq": {
            "hgvs": "NM_182978.4:c.1291G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334051.5:p.Val431="
          },
          "RefSeq": {
            "hgvs": "NP_892023.1:p.Val431="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 602,
          "referenceAllele": "G",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001261444.2:c.439G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001248373.1:p.Val147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1409,
          "referenceAllele": "G",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001369387.1:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356316.1:p.Val354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423027.8:c.1060G="
          },
          "RefSeq": {
            "hgvs": "NM_001369387.1:c.1060G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000408489.2:p.Val354="
          },
          "RefSeq": {
            "hgvs": "NP_001356316.1:p.Val354="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1276,
          "referenceAllele": "G",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001142339.3:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001135811.1:p.Val354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1199,
          "referenceAllele": "G",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001261443.2:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001248372.1:p.Val354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715023"
    }
  ],
  "type": "nucleotide"
}