{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1845638941",
  "communityStandardTitle": [
    "NM_000155.4(GALT):c.652C= (p.Leu218=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2070075",
        "rs": 2070075
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033742",
        "rs": 111033742
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 34648421,
          "referenceAllele": "C",
          "start": 34648420
        }
      ],
      "hgvs": [
        "NC_000009.12:g.34648421C=",
        "CM000671.2:g.34648421C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 34648418,
          "referenceAllele": "C",
          "start": 34648417
        }
      ],
      "hgvs": [
        "NC_000009.11:g.34648418C=",
        "CM000671.1:g.34648418C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 34638418,
          "referenceAllele": "C",
          "start": 34638417
        }
      ],
      "hgvs": [
        "NC_000009.10:g.34638418C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6784,
          "referenceAllele": "C",
          "start": 6783
        }
      ],
      "hgvs": [
        "NG_009029.1:g.6784C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "hgvs": [
        "NG_028966.1:g.1237C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6833,
          "referenceAllele": "C",
          "start": 6832
        }
      ],
      "hgvs": [
        "NG_009029.2:g.6833C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616123"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "hgvs": [
        "ENST00000691183.1:c.*240C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509954.1:n.*240C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000378842.8:c.652C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368119.4:p.Leu218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378842.8:c.652C="
          },
          "RefSeq": {
            "hgvs": "NM_000155.4:c.652C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368119.4:p.Leu218="
          },
          "RefSeq": {
            "hgvs": "NP_000146.2:p.Leu218="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000378842.7:c.652C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368119.3:p.Leu218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "referenceAllele": "C",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000450095.6:c.325C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401956.2:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 908,
          "referenceAllele": "C",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000472111.5:n.908C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 670,
          "referenceAllele": "C",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000473506.6:c.*240C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432839.2:n.*240C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000473529.5:n.811C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1037,
          "referenceAllele": "C",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000487381.5:n.1037C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000489643.6:n.427C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327659"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 697,
          "referenceAllele": "C",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554085.5:c.*396C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450419.1:n.*396C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 596,
          "referenceAllele": "C",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554550.5:c.*272C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451435.1:n.*272C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554638.5:n.1124C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370797"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "referenceAllele": "C",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555020.5:n.808C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555086.5:n.656C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "referenceAllele": "C",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555214.5:n.473C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 639,
          "referenceAllele": "C",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556244.1:c.639C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "referenceAllele": "C",
          "start": 456
        }
      ],
      "hgvs": [
        "ENST00000556278.1:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451792.1:p.Leu133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372097"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 773,
          "referenceAllele": "C",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556494.5:n.773C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1214,
          "referenceAllele": "C",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000557706.5:n.1214C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373248"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825068096",
      "coordinates": [
        {
          "allele": "C",
          "end": 768,
          "referenceAllele": "C",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_000155.3:c.652C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000146.2:p.Leu218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826467658",
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "referenceAllele": "C",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_001258332.1:c.325C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245261.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825068096",
      "coordinates": [
        {
          "allele": "C",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_000155.4:c.652C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000146.2:p.Leu218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378842.8:c.652C="
          },
          "RefSeq": {
            "hgvs": "NM_000155.4:c.652C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368119.4:p.Leu218="
          },
          "RefSeq": {
            "hgvs": "NP_000146.2:p.Leu218="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826467658",
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_001258332.2:c.325C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245261.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714940"
    }
  ],
  "type": "nucleotide"
}