{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397079518",
  "communityStandardTitle": [
    "NM_000512.5(GALNS):c.758+1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1036270[alleleid]",
        "alleleId": 1036270,
        "preferredName": "NM_000512.5(GALNS):c.758+1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1048294",
        "RCV": [
          "RCV001578395"
        ],
        "variationId": 1048294
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88902132C>G?assembly=hg19",
        "id": "chr16:g.88902132C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88835724C>G?assembly=hg38",
        "id": "chr16:g.88835724C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1363382746",
        "rs": 1363382746
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88902132-C-G?dataset=gnomad_r2_1",
        "id": "16-88902132-C-G",
        "variant": "16:88902132 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88835724-C-G?dataset=gnomad_r4",
        "id": "16-88835724-C-G",
        "variant": "16:88835724 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88835724,
          "referenceAllele": "C",
          "start": 88835723
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88835724C>G",
        "CM000678.2:g.88835724C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88902132,
          "referenceAllele": "C",
          "start": 88902131
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88902132C>G",
        "CM000678.1:g.88902132C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 87429633,
          "referenceAllele": "C",
          "start": 87429632
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87429633C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 26243,
          "referenceAllele": "G",
          "start": 26242
        }
      ],
      "hgvs": [
        "NG_008667.1:g.26243G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001157"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 828,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 828,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.10:c.758+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:n.758+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.758+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.758+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:n.758+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:n.758+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 847,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 847,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.9:c.758+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:n.758+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4167,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4167,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562593.5:n.4167+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 346,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 346,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562931.5:n.346+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377098"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 439,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 439,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000567525.5:c.439+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454484.1:n.439+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 877,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 877,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000568613.5:c.877+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457921.1:n.877+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 847,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 847,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.4:c.758+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:n.758+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 847,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 847,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.2:c.758+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:n.758+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 893,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256302.1:c.776+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256359.1:n.776+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 893,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.1:c.776+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:n.776+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 893,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522984.1:c.776+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521286.1:n.776+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 727,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 727,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.1:c.203+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:n.203+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1021,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1021,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.1:c.776+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:n.776+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 847,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 847,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.3:c.758+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:n.758+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 893,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.2:c.776+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:n.776+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3178,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3178,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023111.2:c.776+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878600.1:n.776+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3178,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3178,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023112.2:c.776+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878601.1:n.776+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 705,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 705,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023113.1:c.203+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878602.1:n.203+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 828,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 828,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.5:c.758+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:n.758+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.758+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.758+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:n.758+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:n.758+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 704,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 704,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.2:c.203+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:n.203+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686042"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 998,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 998,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.2:c.776+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:n.776+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686043"
    }
  ],
  "type": "nucleotide"
}