{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6746422",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=330107[alleleid]",
        "alleleId": 330107,
        "preferredName": "NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/306805",
        "RCV": [
          "RCV000296241",
          "RCV000349372",
          "RCV000973976",
          "RCV004537727"
        ],
        "variationId": 306805
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-102158196-T-C",
        "id": "12-102158196-T-C",
        "variant": "12:102158196 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102158196T>C?assembly=hg19",
        "id": "chr12:g.102158196T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101764418T>C?assembly=hg38",
        "id": "chr12:g.101764418T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/77410031",
        "rs": 77410031
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102158196-T-C?dataset=gnomad_r2_1",
        "id": "12-102158196-T-C",
        "variant": "12:102158196 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101764418-T-C?dataset=gnomad_r3",
        "id": "12-101764418-T-C",
        "variant": "12:101764418 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101764418-T-C?dataset=gnomad_r4",
        "id": "12-101764418-T-C",
        "variant": "12:101764418 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 101764418,
          "referenceAllele": "T",
          "start": 101764417
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101764418T>C",
        "CM000674.2:g.101764418T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 102158196,
          "referenceAllele": "T",
          "start": 102158195
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102158196T>C",
        "CM000674.1:g.102158196T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 100682327,
          "referenceAllele": "T",
          "start": 100682326
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100682327T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 71450,
          "referenceAllele": "A",
          "start": 71449
        }
      ],
      "hgvs": [
        "NG_021243.1:g.71450A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2783,
          "referenceAllele": "A",
          "start": 2782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.2499A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Glu833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.2499A>G"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.2499A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Glu833="
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Glu833="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2762,
          "referenceAllele": "A",
          "start": 2761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.2499A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Glu833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830023762",
      "coordinates": [
        {
          "allele": "G",
          "end": 2691,
          "referenceAllele": "A",
          "start": 2690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.2499A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Glu833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2686,
          "referenceAllele": "A",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.2499A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Glu833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3232,
          "referenceAllele": "A",
          "start": 3231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.2418A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Glu806="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2642,
          "referenceAllele": "A",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.2499A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Glu833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2687,
          "referenceAllele": "A",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.2418A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Glu806="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2588,
          "referenceAllele": "A",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.2283A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Glu761="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2765,
          "referenceAllele": "A",
          "start": 2764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.1272A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:p.Glu424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830023762",
      "coordinates": [
        {
          "allele": "G",
          "end": 2783,
          "referenceAllele": "A",
          "start": 2782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.2499A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Glu833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.2499A>G"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.2499A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Glu833="
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Glu833="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}