{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1845634848",
  "communityStandardTitle": [
    "NM_000155.4(GALT):c.82G= (p.Asp28=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033636",
        "rs": 111033636
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 34646786,
          "referenceAllele": "G",
          "start": 34646785
        }
      ],
      "hgvs": [
        "NC_000009.12:g.34646786G=",
        "CM000671.2:g.34646786G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 34646783,
          "referenceAllele": "G",
          "start": 34646782
        }
      ],
      "hgvs": [
        "NC_000009.11:g.34646783G=",
        "CM000671.1:g.34646783G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 34636783,
          "referenceAllele": "G",
          "start": 34636782
        }
      ],
      "hgvs": [
        "NC_000009.10:g.34636783G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5149,
          "referenceAllele": "G",
          "start": 5148
        }
      ],
      "hgvs": [
        "NG_009029.1:g.5149G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5198,
          "referenceAllele": "G",
          "start": 5197
        }
      ],
      "hgvs": [
        "NG_009029.2:g.5198G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616123"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 156,
          "referenceAllele": "G",
          "start": 155
        }
      ],
      "hgvs": [
        "ENST00000691183.1:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509954.1:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000378842.8:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368119.4:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378842.8:c.82G="
          },
          "RefSeq": {
            "hgvs": "NM_000155.4:c.82G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368119.4:p.Asp28="
          },
          "RefSeq": {
            "hgvs": "NP_000146.2:p.Asp28="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124,
          "referenceAllele": "G",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000378842.7:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368119.3:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000450095.6:c.-121G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401956.2:n.-121G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 119,
          "referenceAllele": "G",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000465543.6:n.119G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000468099.2:n.154G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 123,
          "referenceAllele": "G",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000472111.5:n.123G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 149,
          "referenceAllele": "G",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000473506.6:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432839.2:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 129,
          "referenceAllele": "G",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000473529.5:n.129G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 108,
          "referenceAllele": "G",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000487381.5:n.108G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000489643.6:n.112G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 110,
          "referenceAllele": "G",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554085.5:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450419.1:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 135,
          "referenceAllele": "G",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554139.5:n.135G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 151,
          "referenceAllele": "G",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554550.5:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451435.1:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554638.5:n.106G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370797"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554897.5:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450942.1:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370993"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554944.5:n.112G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555020.5:n.112G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5,
          "referenceAllele": "G",
          "start": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555086.5:n.5G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 91,
          "referenceAllele": "G",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555214.5:n.91G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "referenceAllele": "G",
          "start": 141
        }
      ],
      "hgvs": [
        "ENST00000556278.1:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451792.1:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14,
          "referenceAllele": "G",
          "start": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556403.5:n.14G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "referenceAllele": "G",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000557541.5:n.142G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 318,
          "referenceAllele": "G",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000605275.1:n.318G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075621800",
      "coordinates": [
        {
          "allele": "G",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_000155.3:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000146.2:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_001258332.1:c.-121G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245261.1:n.-121G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075621800",
      "coordinates": [
        {
          "allele": "G",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_000155.4:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000146.2:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378842.8:c.82G="
          },
          "RefSeq": {
            "hgvs": "NM_000155.4:c.82G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368119.4:p.Asp28="
          },
          "RefSeq": {
            "hgvs": "NP_000146.2:p.Asp28="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_001258332.2:c.-121G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245261.1:n.-121G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714940"
    }
  ],
  "type": "nucleotide"
}