{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8770841",
  "communityStandardTitle": [
    "NM_000154.2(GALK1):c.746C>T (p.Ala249Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=347287[alleleid]",
        "alleleId": 347287,
        "preferredName": "NM_000154.2(GALK1):c.746C>T (p.Ala249Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/325232",
        "RCV": [
          "RCV000374236",
          "RCV003910242"
        ],
        "variationId": 325232
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-73758832-G-A",
        "id": "17-73758832-G-A",
        "variant": "17:73758832 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73758832G>A?assembly=hg19",
        "id": "chr17:g.73758832G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75762751G>A?assembly=hg38",
        "id": "chr17:g.75762751G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149825190",
        "rs": 149825190
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-73758832-G-A?dataset=gnomad_r2_1",
        "id": "17-73758832-G-A",
        "variant": "17:73758832 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75762751-G-A?dataset=gnomad_r3",
        "id": "17-75762751-G-A",
        "variant": "17:75762751 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75762751-G-A?dataset=gnomad_r4",
        "id": "17-75762751-G-A",
        "variant": "17:75762751 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 75762751,
          "referenceAllele": "G",
          "start": 75762750
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75762751G>A",
        "CM000679.2:g.75762751G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 73758832,
          "referenceAllele": "G",
          "start": 73758831
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73758832G>A",
        "CM000679.1:g.73758832G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 71270427,
          "referenceAllele": "G",
          "start": 71270426
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71270427G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7449,
          "referenceAllele": "C",
          "start": 7448
        }
      ],
      "hgvs": [
        "NG_008079.1:g.7449C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7449,
          "referenceAllele": "C",
          "start": 7448
        }
      ],
      "hgvs": [
        "NG_008079.2:g.7449C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "C",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000587707.2:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468341.2:n.778C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000592997.6:c.656C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464765.2:p.Ala219Val",
        "hgvsWellDefined": "ENSP00000464765.2:p.Ala219Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000588479.6:c.746C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465930.1:p.Ala249Val",
        "hgvsWellDefined": "ENSP00000465930.1:p.Ala249Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761125",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588479.6:c.746C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000154.2:c.746C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000465930.1:p.Ala249Val"
          },
          "RefSeq": {
            "hgvs": "NP_000145.1:p.Ala249Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000225614.6:c.746C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225614.1:p.Ala249Val",
        "hgvsWellDefined": "ENSP00000225614.1:p.Ala249Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 532,
          "referenceAllele": "C",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000587707.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468341.1:n.532C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1321,
          "referenceAllele": "C",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000588479.5:c.746C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465930.1:p.Ala249Val",
        "hgvsWellDefined": "ENSP00000465930.1:p.Ala249Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000592494.1:n.1065C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "referenceAllele": "C",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000592997.5:c.122C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464765.1:p.Ala41Val",
        "hgvsWellDefined": "ENSP00000464765.1:p.Ala41Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393942"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645418242",
      "coordinates": [
        {
          "allele": "T",
          "end": 809,
          "referenceAllele": "C",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NM_000154.1:c.746C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000145.1:p.Ala249Val",
        "hgvsWellDefined": "NP_000145.1:p.Ala249Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006216"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645418242",
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NM_000154.2:c.746C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000145.1:p.Ala249Val",
        "hgvsWellDefined": "NP_000145.1:p.Ala249Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588479.6:c.746C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000154.2:c.746C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000465930.1:p.Ala249Val"
          },
          "RefSeq": {
            "hgvs": "NP_000145.1:p.Ala249Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NM_001381985.1:c.746C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001368914.1:p.Ala249Val",
        "hgvsWellDefined": "NP_001368914.1:p.Ala249Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722163"
    }
  ],
  "type": "nucleotide"
}