{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA373280384",
  "communityStandardTitle": [
    "NM_000155.4(GALT):c.354A>T (p.Gln118His)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.34647679A>T?assembly=hg19",
        "id": "chr9:g.34647679A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.34647682A>T?assembly=hg38",
        "id": "chr9:g.34647682A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 34647682,
          "referenceAllele": "A",
          "start": 34647681
        }
      ],
      "hgvs": [
        "NC_000009.12:g.34647682A>T",
        "CM000671.2:g.34647682A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 34647679,
          "referenceAllele": "A",
          "start": 34647678
        }
      ],
      "hgvs": [
        "NC_000009.11:g.34647679A>T",
        "CM000671.1:g.34647679A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 34637679,
          "referenceAllele": "A",
          "start": 34637678
        }
      ],
      "hgvs": [
        "NC_000009.10:g.34637679A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6045,
          "referenceAllele": "A",
          "start": 6044
        }
      ],
      "hgvs": [
        "NG_009029.1:g.6045A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "A",
          "start": 497
        }
      ],
      "hgvs": [
        "NG_028966.1:g.498A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6094,
          "referenceAllele": "A",
          "start": 6093
        }
      ],
      "hgvs": [
        "NG_009029.2:g.6094A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616123"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "A",
          "start": 402,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "hgvs": [
        "ENST00000691183.1:c.328+115A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509954.1:n.328+115A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "A",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000378842.8:c.354A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368119.4:p.Gln118His",
        "hgvsWellDefined": "ENSP00000368119.4:p.Gln118His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378842.8:c.354A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000155.4:c.354A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368119.4:p.Gln118His"
          },
          "RefSeq": {
            "hgvs": "NP_000146.2:p.Gln118His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "referenceAllele": "A",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000378842.7:c.354A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368119.3:p.Gln118His",
        "hgvsWellDefined": "ENSP00000368119.3:p.Gln118His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "endIntronDirection": "-",
          "endIntronOffset": 149,
          "referenceAllele": "A",
          "start": 368,
          "startIntronDirection": "-",
          "startIntronOffset": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000450095.6:c.51-150A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401956.2:n.51-150A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "A",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000465543.6:n.693A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 484,
          "referenceAllele": "A",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000472111.5:n.484A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 372,
          "referenceAllele": "A",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000473506.6:c.305A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432839.2:p.Lys102Met",
        "hgvsWellDefined": "ENSP00000432839.2:p.Lys102Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "A",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000473529.5:n.490A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "A",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000485531.1:n.669A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "A",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000487381.5:n.613A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "endIntronDirection": "+",
          "endIntronOffset": 424,
          "referenceAllele": "A",
          "start": 282,
          "startIntronDirection": "+",
          "startIntronOffset": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000489643.6:n.282+424A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "A",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554085.5:c.*98A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450419.1:n.*98A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "A",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554139.5:n.407A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "A",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554330.5:n.391A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "endIntronDirection": "-",
          "endIntronOffset": 149,
          "referenceAllele": "A",
          "start": 321,
          "startIntronDirection": "-",
          "startIntronOffset": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554550.5:c.253-150A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451435.1:n.253-150A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "A",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554638.5:n.700A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "endIntronDirection": "-",
          "endIntronOffset": 149,
          "referenceAllele": "A",
          "start": 282,
          "startIntronDirection": "-",
          "startIntronOffset": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554897.5:c.253-150A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450942.1:n.253-150A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "A",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000554944.5:n.424A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "A",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555020.5:n.384A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "A",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555086.5:n.358A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 261,
          "endIntronDirection": "-",
          "endIntronOffset": 365,
          "referenceAllele": "A",
          "start": 261,
          "startIntronDirection": "-",
          "startIntronOffset": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000555214.5:n.262-366A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "A",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556157.1:n.478A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "referenceAllele": "A",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556244.1:c.341A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 312,
          "endIntronDirection": "+",
          "endIntronOffset": 424,
          "referenceAllele": "A",
          "start": 312,
          "startIntronDirection": "+",
          "startIntronOffset": 423
        }
      ],
      "hgvs": [
        "ENST00000556278.1:c.252+424A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451792.1:n.252+424A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "referenceAllele": "A",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556403.5:n.456A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 475,
          "referenceAllele": "A",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000556494.5:n.475A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "A",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000557541.5:n.498A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "A",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "ENST00000557706.5:n.790A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373248"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092651",
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "A",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_000155.3:c.354A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000146.2:p.Gln118His",
        "hgvsWellDefined": "NP_000146.2:p.Gln118His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "endIntronDirection": "-",
          "endIntronOffset": 149,
          "referenceAllele": "A",
          "start": 368,
          "startIntronDirection": "-",
          "startIntronOffset": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_001258332.1:c.51-150A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245261.1:n.51-150A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092651",
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "A",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_000155.4:c.354A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000146.2:p.Gln118His",
        "hgvsWellDefined": "NP_000146.2:p.Gln118His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378842.8:c.354A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000155.4:c.354A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368119.4:p.Gln118His"
          },
          "RefSeq": {
            "hgvs": "NP_000146.2:p.Gln118His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "endIntronDirection": "-",
          "endIntronOffset": 149,
          "referenceAllele": "A",
          "start": 282,
          "startIntronDirection": "-",
          "startIntronOffset": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_001258332.2:c.51-150A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245261.1:n.51-150A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714940"
    }
  ],
  "type": "nucleotide"
}