{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397080858",
  "communityStandardTitle": [
    "NM_000512.5(GALNS):c.634-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1036293[alleleid]",
        "alleleId": 1036293,
        "preferredName": "NM_000512.5(GALNS):c.634-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1048466",
        "RCV": [
          "RCV001578568"
        ],
        "variationId": 1048466
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88902258C>T?assembly=hg19",
        "id": "chr16:g.88902258C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88835850C>T?assembly=hg38",
        "id": "chr16:g.88835850C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2143001463",
        "rs": 2143001463
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 88835850,
          "referenceAllele": "C",
          "start": 88835849
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88835850C>T",
        "CM000678.2:g.88835850C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 88902258,
          "referenceAllele": "C",
          "start": 88902257
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88902258C>T",
        "CM000678.1:g.88902258C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 87429759,
          "referenceAllele": "C",
          "start": 87429758
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87429759C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 26117,
          "referenceAllele": "G",
          "start": 26116
        }
      ],
      "hgvs": [
        "NG_008667.1:g.26117G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001157"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 703,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 703,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.10:c.634-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:n.634-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.634-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.634-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:n.634-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:n.634-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.9:c.634-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:n.634-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4042,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 4042,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562593.5:n.4043-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562831.1:c.418-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455174.1:n.418-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 221,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562931.5:n.222-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000566563.1:n.336-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379525"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 314,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000567525.5:c.315-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454484.1:n.315-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 752,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 752,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000568613.5:c.753-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457921.1:n.753-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.4:c.634-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:n.634-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.2:c.634-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:n.634-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 768,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 768,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256302.1:c.652-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256359.1:n.652-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 768,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 768,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.1:c.652-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:n.652-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 768,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 768,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522984.1:c.652-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521286.1:n.652-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 602,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 602,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.1:c.79-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:n.79-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 896,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 896,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.1:c.652-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:n.652-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.3:c.634-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:n.634-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 768,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 768,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.2:c.652-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:n.652-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3053,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3053,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023111.2:c.652-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878600.1:n.652-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3053,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3053,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023112.2:c.652-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878601.1:n.652-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 580,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023113.1:c.79-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878602.1:n.79-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 703,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 703,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.5:c.634-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:n.634-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.634-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.634-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:n.634-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:n.634-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 579,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.2:c.79-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:n.79-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 873,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 873,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.2:c.652-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:n.652-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686043"
    }
  ],
  "type": "nucleotide"
}