{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8234914",
  "communityStandardTitle": [
    "NM_000512.5(GALNS):c.899-6T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=268675[alleleid]",
        "alleleId": 268675,
        "preferredName": "NM_000512.5(GALNS):c.899-6T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/284438",
        "RCV": [
          "RCV000307021",
          "RCV002059155"
        ],
        "variationId": 284438
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-88898515-A-G",
        "id": "16-88898515-A-G",
        "variant": "16:88898515 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88898515A>G?assembly=hg19",
        "id": "chr16:g.88898515A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88832107A>G?assembly=hg38",
        "id": "chr16:g.88832107A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374850312",
        "rs": 374850312
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88898515-A-G?dataset=gnomad_r2_1",
        "id": "16-88898515-A-G",
        "variant": "16:88898515 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88832107-A-G?dataset=gnomad_r3",
        "id": "16-88832107-A-G",
        "variant": "16:88832107 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88832107-A-G?dataset=gnomad_r4",
        "id": "16-88832107-A-G",
        "variant": "16:88832107 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88832107,
          "referenceAllele": "A",
          "start": 88832106
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88832107A>G",
        "CM000678.2:g.88832107A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88898515,
          "referenceAllele": "A",
          "start": 88898514
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88898515A>G",
        "CM000678.1:g.88898515A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 87426016,
          "referenceAllele": "A",
          "start": 87426015
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87426016A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 29860,
          "referenceAllele": "T",
          "start": 29859
        }
      ],
      "hgvs": [
        "NG_008667.1:g.29860T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001157"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 968,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 968,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.10:c.899-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:n.899-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.899-6T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.899-6T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:n.899-6T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:n.899-6T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 987,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 987,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.9:c.899-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:n.899-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4307,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 4307,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562593.5:n.4308-6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 486,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 486,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562931.5:n.487-6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377098"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 579,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000567525.5:c.580-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454484.1:n.580-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1017,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1017,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000568613.5:c.1018-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457921.1:n.1018-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 987,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 987,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.4:c.899-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:n.899-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 987,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 987,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.2:c.899-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:n.899-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1033,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1033,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256302.1:c.917-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256359.1:n.917-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1033,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1033,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.1:c.917-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:n.917-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1033,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1033,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522984.1:c.917-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521286.1:n.917-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 867,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 867,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.1:c.344-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:n.344-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1161,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1161,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.1:c.917-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:n.917-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 987,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 987,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.3:c.899-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:n.899-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1033,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1033,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.2:c.917-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:n.917-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3318,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 3318,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023111.2:c.917-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878600.1:n.917-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3318,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 3318,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023112.2:c.917-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878601.1:n.917-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 845,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 845,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023113.1:c.344-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878602.1:n.344-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 968,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 968,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.5:c.899-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:n.899-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.899-6T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.899-6T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:n.899-6T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:n.899-6T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 844,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 844,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.2:c.344-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:n.344-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686042"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1138,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1138,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.2:c.917-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:n.917-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686043"
    }
  ],
  "type": "nucleotide"
}