{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6151472",
  "communityStandardTitle": [
    "NM_015973.5(GAL):c.178C>T (p.Leu60Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=567485[alleleid]",
        "alleleId": 567485,
        "preferredName": "NM_015973.5(GAL):c.178C>T (p.Leu60Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/571157",
        "RCV": [
          "RCV000692209",
          "RCV004025112"
        ],
        "variationId": 571157
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-68455523-C-T",
        "id": "11-68455523-C-T",
        "variant": "11:68455523 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68455523C>T?assembly=hg19",
        "id": "chr11:g.68455523C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68688055C>T?assembly=hg38",
        "id": "chr11:g.68688055C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/527905700",
        "rs": 527905700
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68455523-C-T?dataset=gnomad_r2_1",
        "id": "11-68455523-C-T",
        "variant": "11:68455523 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68688055-C-T?dataset=gnomad_r3",
        "id": "11-68688055-C-T",
        "variant": "11:68688055 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68688055-C-T?dataset=gnomad_r4",
        "id": "11-68688055-C-T",
        "variant": "11:68688055 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 68688055,
          "referenceAllele": "C",
          "start": 68688054
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68688055C>T",
        "CM000673.2:g.68688055C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 68455523,
          "referenceAllele": "C",
          "start": 68455522
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68455523C>T",
        "CM000673.1:g.68455523C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 68212099,
          "referenceAllele": "C",
          "start": 68212098
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68212099C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8581,
          "referenceAllele": "C",
          "start": 8580
        }
      ],
      "hgvs": [
        "NG_052785.1:g.8581C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617159"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "C",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004114",
      "geneNCBI_id": 51083,
      "geneSymbol": "GAL",
      "hgvs": [
        "ENST00000265643.4:c.178C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265643.3:p.Leu60Phe",
        "hgvsWellDefined": "ENSP00000265643.3:p.Leu60Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742864",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265643.4:c.178C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015973.5:c.178C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265643.3:p.Leu60Phe"
          },
          "RefSeq": {
            "hgvs": "NP_057057.2:p.Leu60Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "referenceAllele": "C",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004114",
      "geneNCBI_id": 51083,
      "geneSymbol": "GAL",
      "hgvs": [
        "ENST00000265643.3:c.178C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265643.3:p.Leu60Phe",
        "hgvsWellDefined": "ENSP00000265643.3:p.Leu60Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891851411",
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004114",
      "geneNCBI_id": 51083,
      "geneSymbol": "GAL",
      "hgvs": [
        "NM_015973.3:c.178C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057057.2:p.Leu60Phe",
        "hgvsWellDefined": "NP_057057.2:p.Leu60Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891851411",
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "referenceAllele": "C",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004114",
      "geneNCBI_id": 51083,
      "geneSymbol": "GAL",
      "hgvs": [
        "NM_015973.4:c.178C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057057.2:p.Leu60Phe",
        "hgvsWellDefined": "NP_057057.2:p.Leu60Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 67,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 67,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "hgvs": [
        "XR_001748281.1:n.68-52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891851411",
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "C",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004114",
      "geneNCBI_id": 51083,
      "geneSymbol": "GAL",
      "hgvs": [
        "NM_015973.5:c.178C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057057.2:p.Leu60Phe",
        "hgvsWellDefined": "NP_057057.2:p.Leu60Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668918",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265643.4:c.178C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015973.5:c.178C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265643.3:p.Leu60Phe"
          },
          "RefSeq": {
            "hgvs": "NP_057057.2:p.Leu60Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}