{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16420173",
  "communityStandardTitle": [
    "NM_015973.5(GAL):c.82-77G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4478771[alleleid]",
        "alleleId": 4478771,
        "preferredName": "NM_015973.5(GAL):c.82-77G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4375786",
        "RCV": [
          "RCV006048806"
        ],
        "variationId": 4375786
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68452985G>A?assembly=hg19",
        "id": "chr11:g.68452985G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68685517G>A?assembly=hg38",
        "id": "chr11:g.68685517G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/694066",
        "rs": 694066
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68452985-G-A?dataset=gnomad_r2_1",
        "id": "11-68452985-G-A",
        "variant": "11:68452985 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68685517-G-A?dataset=gnomad_r3",
        "id": "11-68685517-G-A",
        "variant": "11:68685517 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68685517-G-A?dataset=gnomad_r4",
        "id": "11-68685517-G-A",
        "variant": "11:68685517 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68685517,
          "referenceAllele": "G",
          "start": 68685516
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68685517G>A",
        "CM000673.2:g.68685517G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68452985,
          "referenceAllele": "G",
          "start": 68452984
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68452985G>A",
        "CM000673.1:g.68452985G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68209561,
          "referenceAllele": "G",
          "start": 68209560
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68209561G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6043,
          "referenceAllele": "G",
          "start": 6042
        }
      ],
      "hgvs": [
        "NG_052785.1:g.6043G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617159"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 270,
          "endIntronDirection": "-",
          "endIntronOffset": 76,
          "referenceAllele": "G",
          "start": 270,
          "startIntronDirection": "-",
          "startIntronOffset": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004114",
      "geneNCBI_id": 51083,
      "geneSymbol": "GAL",
      "hgvs": [
        "ENST00000265643.4:c.82-77G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265643.3:n.82-77G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742864",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265643.4:c.82-77G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015973.5:c.82-77G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265643.3:n.82-77G>A"
          },
          "RefSeq": {
            "hgvs": "NP_057057.2:n.82-77G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 339,
          "endIntronDirection": "-",
          "endIntronOffset": 76,
          "referenceAllele": "G",
          "start": 339,
          "startIntronDirection": "-",
          "startIntronOffset": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004114",
      "geneNCBI_id": 51083,
      "geneSymbol": "GAL",
      "hgvs": [
        "ENST00000265643.3:c.82-77G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265643.3:n.82-77G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251791"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299,
          "endIntronDirection": "-",
          "endIntronOffset": 76,
          "referenceAllele": "G",
          "start": 299,
          "startIntronDirection": "-",
          "startIntronOffset": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004114",
      "geneNCBI_id": 51083,
      "geneSymbol": "GAL",
      "hgvs": [
        "NM_015973.3:c.82-77G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057057.2:n.82-77G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 339,
          "endIntronDirection": "-",
          "endIntronOffset": 76,
          "referenceAllele": "G",
          "start": 339,
          "startIntronDirection": "-",
          "startIntronOffset": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004114",
      "geneNCBI_id": 51083,
      "geneSymbol": "GAL",
      "hgvs": [
        "NM_015973.4:c.82-77G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057057.2:n.82-77G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 2324,
          "referenceAllele": "C",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 2323
        }
      ],
      "hgvs": [
        "XR_001748281.1:n.230+2324C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 270,
          "endIntronDirection": "-",
          "endIntronOffset": 76,
          "referenceAllele": "G",
          "start": 270,
          "startIntronDirection": "-",
          "startIntronOffset": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004114",
      "geneNCBI_id": 51083,
      "geneSymbol": "GAL",
      "hgvs": [
        "NM_015973.5:c.82-77G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057057.2:n.82-77G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668918",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265643.4:c.82-77G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015973.5:c.82-77G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265643.3:n.82-77G>A"
          },
          "RefSeq": {
            "hgvs": "NP_057057.2:n.82-77G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}