{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA390745364",
  "communityStandardTitle": [
    "NM_000153.4(GALC):c.1922C>G (p.Thr641Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.88401212G>C?assembly=hg19",
        "id": "chr14:g.88401212G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.87934868G>C?assembly=hg38",
        "id": "chr14:g.87934868G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 87934868,
          "referenceAllele": "G",
          "start": 87934867
        }
      ],
      "hgvs": [
        "NC_000014.9:g.87934868G>C",
        "CM000676.2:g.87934868G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 88401212,
          "referenceAllele": "G",
          "start": 88401211
        }
      ],
      "hgvs": [
        "NC_000014.8:g.88401212G>C",
        "CM000676.1:g.88401212G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 87470965,
          "referenceAllele": "G",
          "start": 87470964
        }
      ],
      "hgvs": [
        "NC_000014.7:g.87470965G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63696,
          "referenceAllele": "C",
          "start": 63695
        }
      ],
      "hgvs": [
        "NG_011853.2:g.63696C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63696,
          "referenceAllele": "C",
          "start": 63695
        }
      ],
      "hgvs": [
        "NG_011853.3:g.63696C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706106"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1940,
          "referenceAllele": "C",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000261304.7:c.1922C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261304.2:p.Thr641Ser",
        "hgvsWellDefined": "ENSP00000261304.2:p.Thr641Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742114",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261304.7:c.1922C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000153.4:c.1922C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261304.2:p.Thr641Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000144.2:p.Thr641Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2029,
          "referenceAllele": "C",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000261304.6:c.1922C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261304.2:p.Thr641Ser",
        "hgvsWellDefined": "ENSP00000261304.2:p.Thr641Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250712"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1867,
          "referenceAllele": "C",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000393568.8:c.1853C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377198.4:p.Thr618Ser",
        "hgvsWellDefined": "ENSP00000377198.4:p.Thr618Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275696"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2010,
          "referenceAllele": "C",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000393569.6:c.1844C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377199.2:p.Thr615Ser",
        "hgvsWellDefined": "ENSP00000377199.2:p.Thr615Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275697"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2251,
          "endIntronDirection": "-",
          "endIntronOffset": 868,
          "referenceAllele": "C",
          "start": 2251,
          "startIntronDirection": "-",
          "startIntronOffset": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000544807.6:c.1744-869C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437513.2:n.1744-869C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 868,
          "referenceAllele": "C",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000555000.5:c.1279-869C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450472.1:n.1279-869C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371079"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 458,
          "referenceAllele": "C",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000555179.1:c.458C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371230"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081098206",
      "coordinates": [
        {
          "allele": "G",
          "end": 2029,
          "referenceAllele": "C",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_000153.3:c.1922C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000144.2:p.Thr641Ser",
        "hgvsWellDefined": "NP_000144.2:p.Thr641Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201401.1:c.1853C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188330.1:p.Thr618Ser",
        "hgvsWellDefined": "NP_001188330.1:p.Thr618Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017332"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2010,
          "referenceAllele": "C",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201402.1:c.1844C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188331.1:p.Thr615Ser",
        "hgvsWellDefined": "NP_001188331.1:p.Thr615Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2290,
          "referenceAllele": "C",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "XM_011536618.1:c.1754C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534920.1:p.Thr585Ser",
        "hgvsWellDefined": "XP_011534920.1:p.Thr585Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2311,
          "referenceAllele": "C",
          "start": 2310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "XM_011536618.2:c.1754C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534920.1:p.Thr585Ser",
        "hgvsWellDefined": "XP_011534920.1:p.Thr585Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081098206",
      "coordinates": [
        {
          "allele": "G",
          "end": 1940,
          "referenceAllele": "C",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_000153.4:c.1922C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000144.2:p.Thr641Ser",
        "hgvsWellDefined": "NP_000144.2:p.Thr641Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662329",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261304.7:c.1922C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000153.4:c.1922C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261304.2:p.Thr641Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000144.2:p.Thr641Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1871,
          "referenceAllele": "C",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201401.2:c.1853C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188330.1:p.Thr618Ser",
        "hgvsWellDefined": "NP_001188330.1:p.Thr618Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714057"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2010,
          "referenceAllele": "C",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201402.2:c.1844C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188331.1:p.Thr615Ser",
        "hgvsWellDefined": "NP_001188331.1:p.Thr615Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714058"
    }
  ],
  "type": "nucleotide"
}