{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1845635428",
  "communityStandardTitle": [
    "NM_000155.4(GALT):c.134C= (p.Ser45=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033652",
        "rs": 111033652
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 34647140,
          "referenceAllele": "C",
          "start": 34647139
        }
      ],
      "hgvs": [
        "NC_000009.12:g.34647140C=",
        "CM000671.2:g.34647140C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 34647137,
          "referenceAllele": "C",
          "start": 34647136
        }
      ],
      "hgvs": [
        "NC_000009.11:g.34647137C=",
        "CM000671.1:g.34647137C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 34637137,
          "referenceAllele": "C",
          "start": 34637136
        }
      ],
      "hgvs": [
        "NC_000009.10:g.34637137C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5503,
          "referenceAllele": "C",
          "start": 5502
        }
      ],
      "hgvs": [
        "NG_009029.1:g.5503C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5552,
          "referenceAllele": "C",
          "start": 5551
        }
      ],
      "hgvs": [
        "NG_009029.2:g.5552C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616123"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 208,
          "referenceAllele": "C",
          "start": 207
        }
      ],
      "hgvs": [
        "ENST00000691183.1:c.134C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509954.1:p.Ser45="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "C",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000378842.8:c.134C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368119.4:p.Ser45="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378842.8:c.134C="
          },
          "RefSeq": {
            "hgvs": "NM_000155.4:c.134C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368119.4:p.Ser45="
          },
          "RefSeq": {
            "hgvs": "NP_000146.2:p.Ser45="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 176,
          "referenceAllele": "C",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000378842.7:c.134C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368119.3:p.Ser45="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "C",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000450095.6:c.-69C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401956.2:n.-69C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "referenceAllele": "C",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000465543.6:n.473C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 174,
          "referenceAllele": "C",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000468099.2:n.174C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 175,
          "referenceAllele": "C",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000472111.5:n.175C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 201,
          "referenceAllele": "C",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000473506.6:c.134C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432839.2:p.Ser45="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 181,
          "referenceAllele": "C",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000473529.5:n.181C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "C",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000485531.1:n.127C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 160,
          "referenceAllele": "C",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000487381.5:n.160C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "C",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000489643.6:n.164C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327659"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 162,
          "referenceAllele": "C",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554085.5:c.134C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450419.1:p.Ser45="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 187,
          "referenceAllele": "C",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554139.5:n.187C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 131,
          "referenceAllele": "C",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554330.5:n.131C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 203,
          "referenceAllele": "C",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554550.5:c.134C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451435.1:p.Ser45="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "referenceAllele": "C",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554638.5:n.158C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370797"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "C",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554897.5:c.134C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450942.1:p.Ser45="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370993"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "C",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554944.5:n.164C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "C",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555020.5:n.164C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 138,
          "referenceAllele": "C",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555086.5:n.138C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "referenceAllele": "C",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555214.5:n.143C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556157.1:n.241C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18,
          "referenceAllele": "C",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556244.1:c.18C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "referenceAllele": "C",
          "start": 193
        }
      ],
      "hgvs": [
        "ENST00000556278.1:c.134C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451792.1:p.Ser45="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372097"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 147,
          "referenceAllele": "C",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556403.5:n.147C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 166,
          "referenceAllele": "C",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556494.5:n.166C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "referenceAllele": "C",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000557541.5:n.327C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373114"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 248,
          "referenceAllele": "C",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000557706.5:n.248C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000605275.1:n.672C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075621812",
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "C",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_000155.3:c.134C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000146.2:p.Ser45="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "C",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_001258332.1:c.-69C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245261.1:n.-69C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075621812",
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "C",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_000155.4:c.134C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000146.2:p.Ser45="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378842.8:c.134C="
          },
          "RefSeq": {
            "hgvs": "NM_000155.4:c.134C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368119.4:p.Ser45="
          },
          "RefSeq": {
            "hgvs": "NP_000146.2:p.Ser45="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "C",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_001258332.2:c.-69C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245261.1:n.-69C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714940"
    }
  ],
  "type": "nucleotide"
}