{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8770756",
  "communityStandardTitle": [
    "NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=588980[alleleid]",
        "alleleId": 588980,
        "preferredName": "NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/597919",
        "RCV": [
          "RCV000734178",
          "RCV001232085"
        ],
        "variationId": 597919
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-73754362-C-T",
        "id": "17-73754362-C-T",
        "variant": "17:73754362 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73754362C>T?assembly=hg19",
        "id": "chr17:g.73754362C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75758281C>T?assembly=hg38",
        "id": "chr17:g.75758281C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375690568",
        "rs": 375690568
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-73754362-C-T?dataset=gnomad_r2_1",
        "id": "17-73754362-C-T",
        "variant": "17:73754362 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75758281-C-T?dataset=gnomad_r3",
        "id": "17-75758281-C-T",
        "variant": "17:75758281 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75758281-C-T?dataset=gnomad_r4",
        "id": "17-75758281-C-T",
        "variant": "17:75758281 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75758281,
          "referenceAllele": "C",
          "start": 75758280
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75758281C>T",
        "CM000679.2:g.75758281C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 73754362,
          "referenceAllele": "C",
          "start": 73754361
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73754362C>T",
        "CM000679.1:g.73754362C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 71265957,
          "referenceAllele": "C",
          "start": 71265956
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71265957C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 41847,
          "referenceAllele": "C",
          "start": 41846
        }
      ],
      "hgvs": [
        "NG_007372.1:g.41847C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11919,
          "referenceAllele": "G",
          "start": 11918
        }
      ],
      "hgvs": [
        "NG_008079.1:g.11919G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11919,
          "referenceAllele": "G",
          "start": 11918
        }
      ],
      "hgvs": [
        "NG_008079.2:g.11919G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000592997.6:c.946G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464765.2:p.Gly316Ser",
        "hgvsWellDefined": "ENSP00000464765.2:p.Gly316Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000588479.6:c.1036G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465930.1:p.Gly346Ser",
        "hgvsWellDefined": "ENSP00000465930.1:p.Gly346Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761125",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588479.6:c.1036G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000154.2:c.1036G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000465930.1:p.Gly346Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000145.1:p.Gly346Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1136,
          "referenceAllele": "G",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000225614.6:c.1036G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225614.1:p.Gly346Ser",
        "hgvsWellDefined": "ENSP00000225614.1:p.Gly346Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000586733.1:n.238G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389600"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1611,
          "referenceAllele": "G",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000588479.5:c.1036G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465930.1:p.Gly346Ser",
        "hgvsWellDefined": "ENSP00000465930.1:p.Gly346Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 160,
          "endIntronDirection": "+",
          "endIntronOffset": 79,
          "referenceAllele": "G",
          "start": 160,
          "startIntronDirection": "+",
          "startIntronOffset": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000589643.1:n.160+79G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 412,
          "referenceAllele": "G",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000592997.5:c.412G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464765.1:p.Gly138Ser",
        "hgvsWellDefined": "ENSP00000464765.1:p.Gly138Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393942"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092198",
      "coordinates": [
        {
          "allele": "A",
          "end": 1099,
          "referenceAllele": "G",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NM_000154.1:c.1036G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000145.1:p.Gly346Ser",
        "hgvsWellDefined": "NP_000145.1:p.Gly346Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006216"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092198",
      "coordinates": [
        {
          "allele": "A",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NM_000154.2:c.1036G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000145.1:p.Gly346Ser",
        "hgvsWellDefined": "NP_000145.1:p.Gly346Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588479.6:c.1036G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000154.2:c.1036G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000465930.1:p.Gly346Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000145.1:p.Gly346Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NM_001381985.1:c.1036G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001368914.1:p.Gly346Ser",
        "hgvsWellDefined": "NP_001368914.1:p.Gly346Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722163"
    }
  ],
  "type": "nucleotide"
}