{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1845637980",
  "communityStandardTitle": [
    "NM_000155.4(GALT):c.512T= (p.Phe171=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033715",
        "rs": 111033715
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 34648119,
          "referenceAllele": "T",
          "start": 34648118
        }
      ],
      "hgvs": [
        "NC_000009.12:g.34648119T=",
        "CM000671.2:g.34648119T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 34648116,
          "referenceAllele": "T",
          "start": 34648115
        }
      ],
      "hgvs": [
        "NC_000009.11:g.34648116T=",
        "CM000671.1:g.34648116T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 34638116,
          "referenceAllele": "T",
          "start": 34638115
        }
      ],
      "hgvs": [
        "NC_000009.10:g.34638116T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6482,
          "referenceAllele": "T",
          "start": 6481
        }
      ],
      "hgvs": [
        "NG_009029.1:g.6482T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "T",
          "start": 934
        }
      ],
      "hgvs": [
        "NG_028966.1:g.935T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6531,
          "referenceAllele": "T",
          "start": 6530
        }
      ],
      "hgvs": [
        "NG_009029.2:g.6531T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616123"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "T",
          "start": 536
        }
      ],
      "hgvs": [
        "ENST00000691183.1:c.*100T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509954.1:n.*100T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 542,
          "referenceAllele": "T",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000378842.8:c.512T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368119.4:p.Phe171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378842.8:c.512T="
          },
          "RefSeq": {
            "hgvs": "NM_000155.4:c.512T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368119.4:p.Phe171="
          },
          "RefSeq": {
            "hgvs": "NP_000146.2:p.Phe171="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "T",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000378842.7:c.512T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368119.3:p.Phe171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "T",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000450095.6:c.185T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401956.2:p.Phe62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 851,
          "referenceAllele": "T",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000465543.6:n.851T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 768,
          "referenceAllele": "T",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000472111.5:n.768T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 530,
          "referenceAllele": "T",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000473506.6:c.*100T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432839.2:n.*100T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "referenceAllele": "T",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000473529.5:n.671T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1106,
          "referenceAllele": "T",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000485531.1:n.1106T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 897,
          "referenceAllele": "T",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000487381.5:n.897T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "referenceAllele": "T",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000489643.6:n.287T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "T",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554085.5:c.*256T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450419.1:n.*256T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "T",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554139.5:n.758T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "referenceAllele": "T",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554550.5:c.*132T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451435.1:n.*132T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 984,
          "referenceAllele": "T",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554638.5:n.984T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 484,
          "referenceAllele": "T",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554897.5:c.*199T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450942.1:n.*199T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 861,
          "referenceAllele": "T",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554944.5:n.861T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 668,
          "referenceAllele": "T",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555020.5:n.668T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "referenceAllele": "T",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555086.5:n.516T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "T",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555214.5:n.333T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "T",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556244.1:c.499T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "referenceAllele": "T",
          "start": 316
        }
      ],
      "hgvs": [
        "ENST00000556278.1:c.257T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451792.1:p.Phe86="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "T",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556494.5:n.633T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1074,
          "referenceAllele": "T",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000557706.5:n.1074T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373248"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075621866",
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "referenceAllele": "T",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_000155.3:c.512T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000146.2:p.Phe171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "T",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_001258332.1:c.185T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245261.1:p.Phe62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075621866",
      "coordinates": [
        {
          "allele": "T",
          "end": 542,
          "referenceAllele": "T",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_000155.4:c.512T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000146.2:p.Phe171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378842.8:c.512T="
          },
          "RefSeq": {
            "hgvs": "NM_000155.4:c.512T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368119.4:p.Phe171="
          },
          "RefSeq": {
            "hgvs": "NP_000146.2:p.Phe171="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "referenceAllele": "T",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_001258332.2:c.185T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245261.1:p.Phe62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714940"
    }
  ],
  "type": "nucleotide"
}