{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6151559",
  "communityStandardTitle": [
    "NM_015973.5(GAL):c.340G>A (p.Ala114Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1356550",
        "active": true,
        "id": "COSM1356550"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=956639[alleleid]",
        "alleleId": 956639,
        "preferredName": "NM_015973.5(GAL):c.340G>A (p.Ala114Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/969501",
        "RCV": [
          "RCV001244864"
        ],
        "variationId": 969501
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-68458423-G-A",
        "id": "11-68458423-G-A",
        "variant": "11:68458423 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68458423G>A?assembly=hg19",
        "id": "chr11:g.68458423G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68690955G>A?assembly=hg38",
        "id": "chr11:g.68690955G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/540782765",
        "rs": 540782765
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68458423-G-A?dataset=gnomad_r2_1",
        "id": "11-68458423-G-A",
        "variant": "11:68458423 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68690955-G-A?dataset=gnomad_r3",
        "id": "11-68690955-G-A",
        "variant": "11:68690955 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68690955-G-A?dataset=gnomad_r4",
        "id": "11-68690955-G-A",
        "variant": "11:68690955 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68690955,
          "referenceAllele": "G",
          "start": 68690954
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68690955G>A",
        "CM000673.2:g.68690955G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68458423,
          "referenceAllele": "G",
          "start": 68458422
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68458423G>A",
        "CM000673.1:g.68458423G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68214999,
          "referenceAllele": "G",
          "start": 68214998
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68214999G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11481,
          "referenceAllele": "G",
          "start": 11480
        }
      ],
      "hgvs": [
        "NG_052785.1:g.11481G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617159"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "referenceAllele": "G",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004114",
      "geneNCBI_id": 51083,
      "geneSymbol": "GAL",
      "hgvs": [
        "ENST00000265643.4:c.340G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265643.3:p.Ala114Thr",
        "hgvsWellDefined": "ENSP00000265643.3:p.Ala114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742864",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265643.4:c.340G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015973.5:c.340G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265643.3:p.Ala114Thr"
          },
          "RefSeq": {
            "hgvs": "NP_057057.2:p.Ala114Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 598,
          "referenceAllele": "G",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004114",
      "geneNCBI_id": 51083,
      "geneSymbol": "GAL",
      "hgvs": [
        "ENST00000265643.3:c.340G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265643.3:p.Ala114Thr",
        "hgvsWellDefined": "ENSP00000265643.3:p.Ala114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139738066",
      "coordinates": [
        {
          "allele": "A",
          "end": 558,
          "referenceAllele": "G",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004114",
      "geneNCBI_id": 51083,
      "geneSymbol": "GAL",
      "hgvs": [
        "NM_015973.3:c.340G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057057.2:p.Ala114Thr",
        "hgvsWellDefined": "NP_057057.2:p.Ala114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139738066",
      "coordinates": [
        {
          "allele": "A",
          "end": 598,
          "referenceAllele": "G",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004114",
      "geneNCBI_id": 51083,
      "geneSymbol": "GAL",
      "hgvs": [
        "NM_015973.4:c.340G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057057.2:p.Ala114Thr",
        "hgvsWellDefined": "NP_057057.2:p.Ala114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034331"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139738066",
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "referenceAllele": "G",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004114",
      "geneNCBI_id": 51083,
      "geneSymbol": "GAL",
      "hgvs": [
        "NM_015973.5:c.340G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057057.2:p.Ala114Thr",
        "hgvsWellDefined": "NP_057057.2:p.Ala114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668918",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265643.4:c.340G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015973.5:c.340G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265643.3:p.Ala114Thr"
          },
          "RefSeq": {
            "hgvs": "NP_057057.2:p.Ala114Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}