{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA259867",
  "communityStandardTitle": [
    "NM_000153.4(GALC):c.857G>A (p.Gly286Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39576[alleleid]",
        "alleleId": 39576,
        "preferredName": "NM_000153.4(GALC):c.857G>A (p.Gly286Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30619",
        "RCV": [
          "RCV000023593",
          "RCV000363446"
        ],
        "variationId": 30619
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-88434730-C-T",
        "id": "14-88434730-C-T",
        "variant": "14:88434730 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.88434730C>T?assembly=hg19",
        "id": "chr14:g.88434730C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.87968386C>T?assembly=hg38",
        "id": "chr14:g.87968386C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199847983",
        "rs": 199847983
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-88434730-C-T?dataset=gnomad_r2_1",
        "id": "14-88434730-C-T",
        "variant": "14:88434730 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-87968386-C-T?dataset=gnomad_r3",
        "id": "14-87968386-C-T",
        "variant": "14:87968386 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-87968386-C-T?dataset=gnomad_r4",
        "id": "14-87968386-C-T",
        "variant": "14:87968386 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 87968386,
          "referenceAllele": "C",
          "start": 87968385
        }
      ],
      "hgvs": [
        "NC_000014.9:g.87968386C>T",
        "CM000676.2:g.87968386C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 88434730,
          "referenceAllele": "C",
          "start": 88434729
        }
      ],
      "hgvs": [
        "NC_000014.8:g.88434730C>T",
        "CM000676.1:g.88434730C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 87504483,
          "referenceAllele": "C",
          "start": 87504482
        }
      ],
      "hgvs": [
        "NC_000014.7:g.87504483C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30178,
          "referenceAllele": "G",
          "start": 30177
        }
      ],
      "hgvs": [
        "NG_011853.2:g.30178G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30178,
          "referenceAllele": "G",
          "start": 30177
        }
      ],
      "hgvs": [
        "NG_011853.3:g.30178G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706106"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "referenceAllele": "G",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000261304.7:c.857G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261304.2:p.Gly286Asp",
        "hgvsWellDefined": "ENSP00000261304.2:p.Gly286Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742114",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261304.7:c.857G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000153.4:c.857G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261304.2:p.Gly286Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000144.2:p.Gly286Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000261304.6:c.857G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261304.2:p.Gly286Asp",
        "hgvsWellDefined": "ENSP00000261304.2:p.Gly286Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250712"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 802,
          "referenceAllele": "G",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000393568.8:c.788G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377198.4:p.Gly263Asp",
        "hgvsWellDefined": "ENSP00000377198.4:p.Gly263Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000393569.6:c.779G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377199.2:p.Gly260Asp",
        "hgvsWellDefined": "ENSP00000377199.2:p.Gly260Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 847,
          "referenceAllele": "G",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000474294.6:n.847G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1197,
          "referenceAllele": "G",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000544807.6:c.689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437513.2:p.Gly230Asp",
        "hgvsWellDefined": "ENSP00000437513.2:p.Gly230Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 380,
          "referenceAllele": "G",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000555000.5:c.224G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450472.1:p.Gly75Asp",
        "hgvsWellDefined": "ENSP00000450472.1:p.Gly75Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 897,
          "referenceAllele": "G",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000557316.5:c.*255G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452314.1:n.*255G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 847,
          "referenceAllele": "G",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000622264.4:c.847G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA259868",
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_000153.3:c.857G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000144.2:p.Gly286Asp",
        "hgvsWellDefined": "NP_000144.2:p.Gly286Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253906",
      "coordinates": [
        {
          "allele": "A",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201401.1:c.788G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188330.1:p.Gly263Asp",
        "hgvsWellDefined": "NP_001188330.1:p.Gly263Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017332"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826254512",
      "coordinates": [
        {
          "allele": "A",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201402.1:c.779G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188331.1:p.Gly260Asp",
        "hgvsWellDefined": "NP_001188331.1:p.Gly260Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1225,
          "referenceAllele": "G",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "XM_011536618.1:c.689G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534920.1:p.Gly230Asp",
        "hgvsWellDefined": "XP_011534920.1:p.Gly230Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1246,
          "referenceAllele": "G",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "XM_011536618.2:c.689G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534920.1:p.Gly230Asp",
        "hgvsWellDefined": "XP_011534920.1:p.Gly230Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA259868",
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "referenceAllele": "G",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_000153.4:c.857G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000144.2:p.Gly286Asp",
        "hgvsWellDefined": "NP_000144.2:p.Gly286Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662329",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261304.7:c.857G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000153.4:c.857G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261304.2:p.Gly286Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000144.2:p.Gly286Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253906",
      "coordinates": [
        {
          "allele": "A",
          "end": 806,
          "referenceAllele": "G",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201401.2:c.788G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188330.1:p.Gly263Asp",
        "hgvsWellDefined": "NP_001188330.1:p.Gly263Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826254512",
      "coordinates": [
        {
          "allele": "A",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201402.2:c.779G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188331.1:p.Gly260Asp",
        "hgvsWellDefined": "NP_001188331.1:p.Gly260Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714058"
    }
  ],
  "type": "nucleotide"
}