{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386486864",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.117G>C (p.Glu39Asp)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102224337C>G?assembly=hg19",
        "id": "chr12:g.102224337C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101830559C>G?assembly=hg38",
        "id": "chr12:g.101830559C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 101830559,
          "referenceAllele": "C",
          "start": 101830558
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101830559C>G",
        "CM000674.2:g.101830559C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 102224337,
          "referenceAllele": "C",
          "start": 102224336
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102224337C>G",
        "CM000674.1:g.102224337C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 100748468,
          "referenceAllele": "C",
          "start": 100748467
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100748468C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5309,
          "referenceAllele": "G",
          "start": 5308
        }
      ],
      "hgvs": [
        "NG_021243.1:g.5309G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.117G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Glu39Asp",
        "hgvsWellDefined": "ENSP00000299314.7:p.Glu39Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.117G>C"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.117G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Glu39Asp"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Glu39Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 105,
          "referenceAllele": "G",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000647144.1:n.105G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 380,
          "referenceAllele": "G",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.117G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Glu39Asp",
        "hgvsWellDefined": "ENSP00000299314.7:p.Glu39Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 285,
          "referenceAllele": "G",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000392919.4:c.117G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376651.4:p.Glu39Asp",
        "hgvsWellDefined": "ENSP00000376651.4:p.Glu39Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 121,
          "referenceAllele": "G",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549165.1:c.117G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450413.1:p.Glu39Asp",
        "hgvsWellDefined": "ENSP00000450413.1:p.Glu39Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549940.5:c.117G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449150.1:p.Glu39Asp",
        "hgvsWellDefined": "ENSP00000449150.1:p.Glu39Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573095636",
      "coordinates": [
        {
          "allele": "C",
          "end": 309,
          "referenceAllele": "G",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.117G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Glu39Asp",
        "hgvsWellDefined": "NP_077288.2:p.Glu39Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 304,
          "referenceAllele": "G",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.117G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Glu39Asp",
        "hgvsWellDefined": "XP_006719656.1:p.Glu39Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.117G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Glu39Asp",
        "hgvsWellDefined": "XP_006719656.1:p.Glu39Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 206,
          "endIntronDirection": "+",
          "endIntronOffset": 67,
          "referenceAllele": "G",
          "start": 206,
          "startIntronDirection": "+",
          "startIntronOffset": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.-100+67G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:n.-100+67G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.-1234G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:n.-1234G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573095636",
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.117G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Glu39Asp",
        "hgvsWellDefined": "NP_077288.2:p.Glu39Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.117G>C"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.117G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Glu39Asp"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Glu39Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}