{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8235072",
  "communityStandardTitle": [
    "NM_000512.5(GALNS):c.633+13G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=342905[alleleid]",
        "alleleId": 342905,
        "preferredName": "NM_000512.5(GALNS):c.633+13G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/321201",
        "RCV": [
          "RCV000362450"
        ],
        "variationId": 321201
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-88902596-C-G",
        "id": "16-88902596-C-G",
        "variant": "16:88902596 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88902596C>G?assembly=hg19",
        "id": "chr16:g.88902596C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88836188C>G?assembly=hg38",
        "id": "chr16:g.88836188C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200292757",
        "rs": 200292757
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88902596-C-G?dataset=gnomad_r2_1",
        "id": "16-88902596-C-G",
        "variant": "16:88902596 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88836188-C-G?dataset=gnomad_r3",
        "id": "16-88836188-C-G",
        "variant": "16:88836188 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88836188-C-G?dataset=gnomad_r4",
        "id": "16-88836188-C-G",
        "variant": "16:88836188 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88836188,
          "referenceAllele": "C",
          "start": 88836187
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88836188C>G",
        "CM000678.2:g.88836188C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88902596,
          "referenceAllele": "C",
          "start": 88902595
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88902596C>G",
        "CM000678.1:g.88902596C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 87430097,
          "referenceAllele": "C",
          "start": 87430096
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87430097C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25779,
          "referenceAllele": "G",
          "start": 25778
        }
      ],
      "hgvs": [
        "NG_008667.1:g.25779G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001157"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 703,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 703,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.10:c.633+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:n.633+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.633+13G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.633+13G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:n.633+13G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:n.633+13G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.9:c.633+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:n.633+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4042,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 4042,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562593.5:n.4042+13G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 514,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 514,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562831.1:c.417+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455174.1:n.417+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562931.5:n.221+13G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377098"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 335,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000566563.1:n.335+13G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 314,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000567525.5:c.314+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454484.1:n.314+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 752,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 752,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000568613.5:c.752+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457921.1:n.752+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.4:c.633+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:n.633+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.2:c.633+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:n.633+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 768,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 768,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256302.1:c.651+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256359.1:n.651+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 768,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 768,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.1:c.651+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:n.651+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 768,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 768,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522984.1:c.651+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521286.1:n.651+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 602,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 602,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.1:c.78+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:n.78+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 896,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 896,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.1:c.651+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:n.651+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.3:c.633+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:n.633+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 768,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 768,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.2:c.651+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:n.651+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3053,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 3053,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023111.2:c.651+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878600.1:n.651+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3053,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 3053,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023112.2:c.651+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878601.1:n.651+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 580,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 580,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023113.1:c.78+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878602.1:n.78+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 703,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 703,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.5:c.633+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:n.633+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.633+13G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.633+13G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:n.633+13G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:n.633+13G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.2:c.78+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:n.78+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686042"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 873,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "G",
          "start": 873,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.2:c.651+13G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:n.651+13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686043"
    }
  ],
  "type": "nucleotide"
}