{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401099454",
  "communityStandardTitle": [
    "NM_000154.2(GALK1):c.954T>A (p.Tyr318Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2980137[alleleid]",
        "alleleId": 2980137,
        "preferredName": "NM_000154.2(GALK1):c.954T>A (p.Tyr318Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2829308",
        "RCV": [
          "RCV003613901"
        ],
        "variationId": 2829308
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73754444A>T?assembly=hg19",
        "id": "chr17:g.73754444A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75758363A>T?assembly=hg38",
        "id": "chr17:g.75758363A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200095299",
        "rs": 200095299
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75758363,
          "referenceAllele": "A",
          "start": 75758362
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75758363A>T",
        "CM000679.2:g.75758363A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 73754444,
          "referenceAllele": "A",
          "start": 73754443
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73754444A>T",
        "CM000679.1:g.73754444A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 71266039,
          "referenceAllele": "A",
          "start": 71266038
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71266039A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 41929,
          "referenceAllele": "A",
          "start": 41928
        }
      ],
      "hgvs": [
        "NG_007372.1:g.41929A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11837,
          "referenceAllele": "T",
          "start": 11836
        }
      ],
      "hgvs": [
        "NG_008079.1:g.11837T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11837,
          "referenceAllele": "T",
          "start": 11836
        }
      ],
      "hgvs": [
        "NG_008079.2:g.11837T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 864,
          "referenceAllele": "T",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000592997.6:c.864T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464765.2:p.Tyr288Ter",
        "hgvsWellDefined": "ENSP00000464765.2:p.Tyr288_Leu362delinsGluValSerCysProGluLeuAspGlnLeuValGluAlaAlaLeuAlaValProGlyValTyrGlySerArgMetThrGlyGlyGlyPheGlyGlyCysThrValThrLeuLeuGluAlaSerAlaAlaProHisAlaMetArgHisIleGlnGluHisTyrGlyGlyThrAlaThrPheTyrLeuSerGlnAlaAlaAspGlyAlaLysValLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1010,
          "referenceAllele": "T",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000588479.6:c.954T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465930.1:p.Tyr318Ter",
        "hgvsWellDefined": "ENSP00000465930.1:p.Tyr318_Leu392delinsGluValSerCysProGluLeuAspGlnLeuValGluAlaAlaLeuAlaValProGlyValTyrGlySerArgMetThrGlyGlyGlyPheGlyGlyCysThrValThrLeuLeuGluAlaSerAlaAlaProHisAlaMetArgHisIleGlnGluHisTyrGlyGlyThrAlaThrPheTyrLeuSerGlnAlaAlaAspGlyAlaLysValLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761125",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588479.6:c.954T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000154.2:c.954T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000465930.1:p.Tyr318Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000145.1:p.Tyr318Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1054,
          "referenceAllele": "T",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000225614.6:c.954T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225614.1:p.Tyr318Ter",
        "hgvsWellDefined": "ENSP00000225614.1:p.Tyr318_Leu392delinsGluValSerCysProGluLeuAspGlnLeuValGluAlaAlaLeuAlaValProGlyValTyrGlySerArgMetThrGlyGlyGlyPheGlyGlyCysThrValThrLeuLeuGluAlaSerAlaAlaProHisAlaMetArgHisIleGlnGluHisTyrGlyGlyThrAlaThrPheTyrLeuSerGlnAlaAlaAspGlyAlaLysValLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "referenceAllele": "T",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000586733.1:n.156T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389600"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1529,
          "referenceAllele": "T",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000588479.5:c.954T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465930.1:p.Tyr318Ter",
        "hgvsWellDefined": "ENSP00000465930.1:p.Tyr318_Leu392delinsGluValSerCysProGluLeuAspGlnLeuValGluAlaAlaLeuAlaValProGlyValTyrGlySerArgMetThrGlyGlyGlyPheGlyGlyCysThrValThrLeuLeuGluAlaSerAlaAlaProHisAlaMetArgHisIleGlnGluHisTyrGlyGlyThrAlaThrPheTyrLeuSerGlnAlaAlaAspGlyAlaLysValLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157,
          "referenceAllele": "T",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000589643.1:n.157T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 330,
          "referenceAllele": "T",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "ENST00000592997.5:c.330T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464765.1:p.Tyr110Ter",
        "hgvsWellDefined": "ENSP00000464765.1:p.Tyr110_Leu184delinsGluValSerCysProGluLeuAspGlnLeuValGluAlaAlaLeuAlaValProGlyValTyrGlySerArgMetThrGlyGlyGlyPheGlyGlyCysThrValThrLeuLeuGluAlaSerAlaAlaProHisAlaMetArgHisIleGlnGluHisTyrGlyGlyThrAlaThrPheTyrLeuSerGlnAlaAlaAspGlyAlaLysValLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393942"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825067791",
      "coordinates": [
        {
          "allele": "A",
          "end": 1017,
          "referenceAllele": "T",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NM_000154.1:c.954T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000145.1:p.Tyr318Ter",
        "hgvsWellDefined": "NP_000145.1:p.Tyr318_Leu392delinsGluValSerCysProGluLeuAspGlnLeuValGluAlaAlaLeuAlaValProGlyValTyrGlySerArgMetThrGlyGlyGlyPheGlyGlyCysThrValThrLeuLeuGluAlaSerAlaAlaProHisAlaMetArgHisIleGlnGluHisTyrGlyGlyThrAlaThrPheTyrLeuSerGlnAlaAlaAspGlyAlaLysValLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006216"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825067791",
      "coordinates": [
        {
          "allele": "A",
          "end": 1010,
          "referenceAllele": "T",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NM_000154.2:c.954T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000145.1:p.Tyr318Ter",
        "hgvsWellDefined": "NP_000145.1:p.Tyr318_Leu392delinsGluValSerCysProGluLeuAspGlnLeuValGluAlaAlaLeuAlaValProGlyValTyrGlySerArgMetThrGlyGlyGlyPheGlyGlyCysThrValThrLeuLeuGluAlaSerAlaAlaProHisAlaMetArgHisIleGlnGluHisTyrGlyGlyThrAlaThrPheTyrLeuSerGlnAlaAlaAspGlyAlaLysValLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588479.6:c.954T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000154.2:c.954T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000465930.1:p.Tyr318Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000145.1:p.Tyr318Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741881375",
      "coordinates": [
        {
          "allele": "A",
          "end": 1010,
          "referenceAllele": "T",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NM_001381985.1:c.954T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001368914.1:p.Tyr318Ter",
        "hgvsWellDefined": "NP_001368914.1:p.Tyr318_Leu392delinsGluValSerCysProGluLeuAspGlnLeuValGluAlaAlaLeuAlaValProGlyValTyrGlySerArgMetThrGlyGlyGlyPheGlyGlyCysThrValThrLeuLeuGluAlaSerAlaAlaProHisAlaMetArgHisIleGlnGluHisTyrGlyGlyThrAlaThrPheTyrLeuSerGlnAlaAlaAspGlyAlaLysValLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722163"
    }
  ],
  "type": "nucleotide"
}