{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2058966567",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.242G= (p.Trp81=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281864953",
        "rs": 281864953
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 101790019,
          "referenceAllele": "C",
          "start": 101790018
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101790019C=",
        "CM000674.2:g.101790019C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 102183797,
          "referenceAllele": "C",
          "start": 102183796
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102183797C=",
        "CM000674.1:g.102183797C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 100707928,
          "referenceAllele": "C",
          "start": 100707927
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100707928C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 45849,
          "referenceAllele": "G",
          "start": 45848
        }
      ],
      "hgvs": [
        "NG_021243.1:g.45849G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.242G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Trp81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.242G="
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.242G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Trp81="
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Trp81="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 505,
          "referenceAllele": "G",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.242G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Trp81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549940.5:c.242G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449150.1:p.Trp81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367749"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000550352.1:n.36G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367993"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079355817",
      "coordinates": [
        {
          "allele": "G",
          "end": 434,
          "referenceAllele": "G",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.242G="
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Trp81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.242G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Trp81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 975,
          "referenceAllele": "G",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.161G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Trp54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.242G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Trp81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 430,
          "referenceAllele": "G",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.161G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Trp54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "referenceAllele": "G",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.26G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Trp9="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.-1109G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:n.-1109G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079355817",
      "coordinates": [
        {
          "allele": "G",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.242G="
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Trp81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.242G="
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.242G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Trp81="
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Trp81="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}