{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1554172359",
  "communityStandardTitle": [
    "NM_000344.4(SMN1):c.823G= (p.Gly275=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/77301881",
        "rs": 77301881
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 70946165,
          "referenceAllele": "G",
          "start": 70946164
        }
      ],
      "hgvs": [
        "NC_000005.10:g.70946165G=",
        "CM000667.2:g.70946165G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 70241992,
          "referenceAllele": "G",
          "start": 70241991
        }
      ],
      "hgvs": [
        "NC_000005.9:g.70241992G=",
        "CM000667.1:g.70241992G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 70277748,
          "referenceAllele": "G",
          "start": 70277747
        }
      ],
      "hgvs": [
        "NC_000005.8:g.70277748G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 26225,
          "referenceAllele": "G",
          "start": 26224
        }
      ],
      "hgvs": [
        "NG_008691.1:g.26225G=",
        "LRG_676:g.26225G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001169"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 840,
          "referenceAllele": "G",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "ENST00000380707.9:c.823G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370083.4:p.Gly275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380707.9:c.823G="
          },
          "RefSeq": {
            "hgvs": "NM_000344.4:c.823G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370083.4:p.Gly275="
          },
          "RefSeq": {
            "hgvs": "NP_000335.1:p.Gly275="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "G",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "ENST00000351205.8:c.823G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305857.5:p.Gly275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262753"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 897,
          "referenceAllele": "G",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "ENST00000380707.8:c.823G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370083.4:p.Gly275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "referenceAllele": "G",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "ENST00000503079.6:c.727G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428128.1:p.Gly243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "ENST00000506163.5:c.823G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424926.1:p.Gly275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "ENST00000506239.6:c.823G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422679.2:p.Gly275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 77,
          "referenceAllele": "G",
          "start": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "ENST00000510679.1:n.77G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "referenceAllele": "G",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "ENST00000513228.1:n.390G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 670,
          "referenceAllele": "G",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "ENST00000514951.5:c.622G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423298.1:p.Gly208="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "ENST00000518504.5:n.340G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS345950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "G",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "ENST00000625245.2:c.823G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486539.1:p.Gly275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406546"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070942716",
      "coordinates": [
        {
          "allele": "G",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "NM_000344.3:c.823G=",
        "LRG_676t1:c.823G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000335.1:p.Gly275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006407"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "NM_001297715.1:c.823G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001284644.1:p.Gly275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 890,
          "referenceAllele": "G",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "NM_022874.2:c.727G="
      ],
      "proteinEffect": {
        "hgvs": "NP_075012.1:p.Gly243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 865,
          "referenceAllele": "G",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "XM_011543596.1:c.823G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541898.1:p.Gly275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 670,
          "referenceAllele": "G",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "XM_011543597.1:c.622G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541899.1:p.Gly208="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "XM_011543598.1:c.526G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541900.1:p.Gly176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110516"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "referenceAllele": "G",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "XM_011543598.3:c.526G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541900.1:p.Gly176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "XM_017009786.1:c.727G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865275.1:p.Gly243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070942716",
      "coordinates": [
        {
          "allele": "G",
          "end": 840,
          "referenceAllele": "G",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "NM_000344.4:c.823G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000335.1:p.Gly275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710828",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380707.9:c.823G="
          },
          "RefSeq": {
            "hgvs": "NM_000344.4:c.823G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370083.4:p.Gly275="
          },
          "RefSeq": {
            "hgvs": "NP_000335.1:p.Gly275="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}