{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2369157365",
  "communityStandardTitle": [
    "NM_020436.5(SALL4):c.2593C= (p.Arg865=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315425",
        "rs": 74315425
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 51789010,
          "referenceAllele": "G",
          "start": 51789009
        }
      ],
      "hgvs": [
        "NC_000020.11:g.51789010G=",
        "CM000682.2:g.51789010G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 50405549,
          "referenceAllele": "G",
          "start": 50405548
        }
      ],
      "hgvs": [
        "NC_000020.10:g.50405549G=",
        "CM000682.1:g.50405549G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 49838956,
          "referenceAllele": "G",
          "start": 49838955
        }
      ],
      "hgvs": [
        "NC_000020.9:g.49838956G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18500,
          "referenceAllele": "C",
          "start": 18499
        }
      ],
      "hgvs": [
        "NG_008000.1:g.18500C=",
        "LRG_675:g.18500C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000764"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2706,
          "referenceAllele": "C",
          "start": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "ENST00000217086.9:c.2593C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217086.4:p.Arg865="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740349",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217086.9:c.2593C="
          },
          "RefSeq": {
            "hgvs": "NM_020436.5:c.2593C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217086.4:p.Arg865="
          },
          "RefSeq": {
            "hgvs": "NP_065169.1:p.Arg865="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2705,
          "referenceAllele": "C",
          "start": 2704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "ENST00000217086.8:c.2593C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217086.4:p.Arg865="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "referenceAllele": "C",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "ENST00000371539.7:c.262C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360594.3:p.Arg88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "ENST00000395997.3:c.1282C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379319.3:p.Arg428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277034"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087698352",
      "coordinates": [
        {
          "allele": "C",
          "end": 2694,
          "referenceAllele": "C",
          "start": 2693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "NM_020436.3:c.2593C=",
        "LRG_675t1:c.2593C="
      ],
      "proteinEffect": {
        "hgvs": "NP_065169.1:p.Arg865="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3279,
          "referenceAllele": "C",
          "start": 3278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "XM_005260467.2:c.2287C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260524.1:p.Arg763="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062792"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5326,
          "referenceAllele": "C",
          "start": 5325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "XM_006723834.2:c.2287C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723897.1:p.Arg763="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2603,
          "referenceAllele": "C",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "XM_011528919.1:c.2467C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527221.1:p.Arg823="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2801,
          "referenceAllele": "C",
          "start": 2800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "XM_011528920.1:c.2287C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527222.1:p.Arg763="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2875,
          "referenceAllele": "C",
          "start": 2874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "XM_011528921.1:c.2287C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527223.1:p.Arg763="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2843,
          "referenceAllele": "C",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "XM_011528922.1:c.2287C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527224.1:p.Arg763="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095993"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1394,
          "referenceAllele": "C",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "XM_011528923.1:c.1282C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527225.1:p.Arg428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1397,
          "referenceAllele": "C",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "NM_001318031.1:c.1282C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304960.1:p.Arg428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087698352",
      "coordinates": [
        {
          "allele": "C",
          "end": 2708,
          "referenceAllele": "C",
          "start": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "NM_020436.4:c.2593C="
      ],
      "proteinEffect": {
        "hgvs": "NP_065169.1:p.Arg865="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3279,
          "referenceAllele": "C",
          "start": 3278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "XM_005260467.4:c.2287C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260524.1:p.Arg763="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2884,
          "referenceAllele": "C",
          "start": 2883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "XM_011528921.2:c.2287C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527223.1:p.Arg763="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2843,
          "referenceAllele": "C",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "XM_011528922.2:c.2287C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527224.1:p.Arg763="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087698352",
      "coordinates": [
        {
          "allele": "C",
          "end": 2706,
          "referenceAllele": "C",
          "start": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "NM_020436.5:c.2593C="
      ],
      "proteinEffect": {
        "hgvs": "NP_065169.1:p.Arg865="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670010",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217086.9:c.2593C="
          },
          "RefSeq": {
            "hgvs": "NM_020436.5:c.2593C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217086.4:p.Arg865="
          },
          "RefSeq": {
            "hgvs": "NP_065169.1:p.Arg865="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1395,
          "referenceAllele": "C",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "NM_001318031.2:c.1282C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304960.1:p.Arg428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684400"
    }
  ],
  "type": "nucleotide"
}