{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8770928",
  "communityStandardTitle": [
    "NM_000154.2(GALK1):c.476-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2173189[alleleid]",
        "alleleId": 2173189,
        "preferredName": "NM_000154.2(GALK1):c.476-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2120469",
        "RCV": [
          "RCV003025167"
        ],
        "variationId": 2120469
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-73759232-T-C",
        "id": "17-73759232-T-C",
        "variant": "17:73759232 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73759232T>C?assembly=hg19",
        "id": "chr17:g.73759232T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75763151T>C?assembly=hg38",
        "id": "chr17:g.75763151T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770871380",
        "rs": 770871380
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-73759232-T-C?dataset=gnomad_r2_1",
        "id": "17-73759232-T-C",
        "variant": "17:73759232 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75763151-T-C?dataset=gnomad_r4",
        "id": "17-75763151-T-C",
        "variant": "17:75763151 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 75763151,
          "referenceAllele": "T",
          "start": 75763150
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75763151T>C",
        "CM000679.2:g.75763151T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 73759232,
          "referenceAllele": "T",
          "start": 73759231
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73759232T>C",
        "CM000679.1:g.73759232T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 71270827,
          "referenceAllele": "T",
          "start": 71270826
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71270827T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7049,
          "referenceAllele": "A",
          "start": 7048
        }
      ],
      "hgvs": [
        "NG_008079.1:g.7049A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7049,
          "referenceAllele": "A",
          "start": 7048
        }
      ],
      "hgvs": [
        "NG_008079.2:g.7049A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "A",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000587707.2:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468341.2:p.Gln169Arg",
        "hgvsWellDefined": "ENSP00000468341.2:p.Gln169Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 475,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 475,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000592997.6:c.476-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464765.2:n.476-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 531,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000588479.6:c.476-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465930.1:n.476-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761125",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588479.6:c.476-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000154.2:c.476-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000465930.1:n.476-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000145.1:n.476-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 575,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000225614.6:c.476-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225614.1:n.476-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248506"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 787,
          "referenceAllele": "A",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000586244.1:c.*368A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468288.1:n.*368A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 260,
          "referenceAllele": "A",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000587707.1:c.260A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468341.1:p.Gln87Arg",
        "hgvsWellDefined": "ENSP00000468341.1:p.Gln87Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1050,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1050,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000588479.5:c.476-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465930.1:n.476-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 665,
          "referenceAllele": "A",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000592494.1:n.665A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 538,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 538,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NM_000154.1:c.476-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000145.1:n.476-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 531,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NM_000154.2:c.476-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000145.1:n.476-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588479.6:c.476-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000154.2:c.476-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000465930.1:n.476-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000145.1:n.476-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 531,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NM_001381985.1:c.476-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001368914.1:n.476-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722163"
    }
  ],
  "type": "nucleotide"
}