{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1845636472",
  "communityStandardTitle": [
    "NM_000155.4(GALT):c.329G= (p.Gly110=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057523885",
        "rs": 1057523885
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 34647657,
          "referenceAllele": "G",
          "start": 34647656
        }
      ],
      "hgvs": [
        "NC_000009.12:g.34647657G=",
        "CM000671.2:g.34647657G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 34647654,
          "referenceAllele": "G",
          "start": 34647653
        }
      ],
      "hgvs": [
        "NC_000009.11:g.34647654G=",
        "CM000671.1:g.34647654G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 34637654,
          "referenceAllele": "G",
          "start": 34637653
        }
      ],
      "hgvs": [
        "NC_000009.10:g.34637654G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6020,
          "referenceAllele": "G",
          "start": 6019
        }
      ],
      "hgvs": [
        "NG_009029.1:g.6020G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 473,
          "referenceAllele": "G",
          "start": 472
        }
      ],
      "hgvs": [
        "NG_028966.1:g.473G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6069,
          "referenceAllele": "G",
          "start": 6068
        }
      ],
      "hgvs": [
        "NG_009029.2:g.6069G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616123"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 402,
          "endIntronDirection": "+",
          "endIntronOffset": 90,
          "referenceAllele": "G",
          "start": 402,
          "startIntronDirection": "+",
          "startIntronOffset": 89
        }
      ],
      "hgvs": [
        "ENST00000691183.1:c.328+90G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509954.1:n.328+90G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "referenceAllele": "G",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000378842.8:c.329G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368119.4:p.Gly110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378842.8:c.329G="
          },
          "RefSeq": {
            "hgvs": "NM_000155.4:c.329G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368119.4:p.Gly110="
          },
          "RefSeq": {
            "hgvs": "NP_000146.2:p.Gly110="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000378842.7:c.329G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368119.3:p.Gly110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 368,
          "endIntronDirection": "-",
          "endIntronOffset": 174,
          "referenceAllele": "G",
          "start": 368,
          "startIntronDirection": "-",
          "startIntronOffset": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000450095.6:c.51-175G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401956.2:n.51-175G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000465543.6:n.668G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 459,
          "referenceAllele": "G",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000472111.5:n.459G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 347,
          "referenceAllele": "G",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000473506.6:c.280G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432839.2:p.Asp94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 465,
          "referenceAllele": "G",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000473529.5:n.465G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000485531.1:n.644G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000487381.5:n.588G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 282,
          "endIntronDirection": "+",
          "endIntronOffset": 399,
          "referenceAllele": "G",
          "start": 282,
          "startIntronDirection": "+",
          "startIntronOffset": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000489643.6:n.282+399G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 374,
          "referenceAllele": "G",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554085.5:c.*73G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450419.1:n.*73G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 382,
          "referenceAllele": "G",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554139.5:n.382G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 366,
          "referenceAllele": "G",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554330.5:n.366G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 321,
          "endIntronDirection": "-",
          "endIntronOffset": 174,
          "referenceAllele": "G",
          "start": 321,
          "startIntronDirection": "-",
          "startIntronOffset": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554550.5:c.253-175G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451435.1:n.253-175G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554638.5:n.675G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370797"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 282,
          "endIntronDirection": "-",
          "endIntronOffset": 174,
          "referenceAllele": "G",
          "start": 282,
          "startIntronDirection": "-",
          "startIntronOffset": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554897.5:c.253-175G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450942.1:n.253-175G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370993"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 399,
          "referenceAllele": "G",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554944.5:n.399G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "referenceAllele": "G",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555020.5:n.359G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555086.5:n.333G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 261,
          "endIntronDirection": "-",
          "endIntronOffset": 390,
          "referenceAllele": "G",
          "start": 261,
          "startIntronDirection": "-",
          "startIntronOffset": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555214.5:n.262-391G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556157.1:n.453G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 316,
          "referenceAllele": "G",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556244.1:c.316G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 312,
          "endIntronDirection": "+",
          "endIntronOffset": 399,
          "referenceAllele": "G",
          "start": 312,
          "startIntronDirection": "+",
          "startIntronOffset": 398
        }
      ],
      "hgvs": [
        "ENST00000556278.1:c.252+399G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451792.1:n.252+399G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556403.5:n.431G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 450,
          "referenceAllele": "G",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556494.5:n.450G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 473,
          "referenceAllele": "G",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000557541.5:n.473G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 765,
          "referenceAllele": "G",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000557706.5:n.765G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373248"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075621833",
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "G",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_000155.3:c.329G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000146.2:p.Gly110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 368,
          "endIntronDirection": "-",
          "endIntronOffset": 174,
          "referenceAllele": "G",
          "start": 368,
          "startIntronDirection": "-",
          "startIntronOffset": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_001258332.1:c.51-175G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245261.1:n.51-175G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075621833",
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "referenceAllele": "G",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_000155.4:c.329G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000146.2:p.Gly110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378842.8:c.329G="
          },
          "RefSeq": {
            "hgvs": "NM_000155.4:c.329G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368119.4:p.Gly110="
          },
          "RefSeq": {
            "hgvs": "NP_000146.2:p.Gly110="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 282,
          "endIntronDirection": "-",
          "endIntronOffset": 174,
          "referenceAllele": "G",
          "start": 282,
          "startIntronDirection": "-",
          "startIntronOffset": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_001258332.2:c.51-175G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245261.1:n.51-175G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714940"
    }
  ],
  "type": "nucleotide"
}