{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA497080070",
  "communityStandardTitle": [
    "NM_000512.5(GALNS):c.268C>A (p.Arg90=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6276127",
        "active": true,
        "id": "COSM6276127"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88908356G>T?assembly=hg19",
        "id": "chr16:g.88908356G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1028668536",
        "rs": 1028668536
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88841948-G-T?dataset=gnomad_r4",
        "id": "16-88841948-G-T",
        "variant": "16:88841948 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 88841948,
          "referenceAllele": "G",
          "start": 88841947
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88841948G>T",
        "CM000678.2:g.88841948G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 88908356,
          "referenceAllele": "G",
          "start": 88908355
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88908356G>T",
        "CM000678.1:g.88908356G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 87435857,
          "referenceAllele": "G",
          "start": 87435856
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87435857G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20019,
          "referenceAllele": "C",
          "start": 20018
        }
      ],
      "hgvs": [
        "NG_008667.1:g.20019C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001157"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 338,
          "referenceAllele": "C",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.10:c.268C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:p.Arg90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.268C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.268C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Arg90="
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Arg90="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "referenceAllele": "C",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.9:c.268C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:p.Arg90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3677,
          "referenceAllele": "C",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562593.5:n.3677C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 149,
          "referenceAllele": "C",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562831.1:c.52C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455174.1:p.Arg18="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000565364.1:n.403C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000567525.5:c.93C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454484.1:p.Asp31Glu",
        "hgvsWellDefined": "ENSP00000454484.1:p.Asp31Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98,
          "referenceAllele": "C",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000567779.1:n.98C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000568613.5:c.387C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457921.1:n.387C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380908"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083029043",
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "referenceAllele": "C",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.4:c.268C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Arg90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "referenceAllele": "C",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.2:c.268C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:p.Arg90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256302.1:c.286C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256359.1:p.Arg96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.1:c.286C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:p.Arg96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522984.1:c.286C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521286.1:p.Arg96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 237,
          "referenceAllele": "C",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.1:c.-288C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:n.-288C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.1:c.286C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Arg96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "referenceAllele": "C",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.3:c.268C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:p.Arg90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.2:c.286C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:p.Arg96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2688,
          "referenceAllele": "C",
          "start": 2687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023111.2:c.286C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878600.1:p.Arg96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2688,
          "referenceAllele": "C",
          "start": 2687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023112.2:c.286C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878601.1:p.Arg96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 215,
          "referenceAllele": "C",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023113.1:c.-288C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878602.1:n.-288C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083029043",
      "coordinates": [
        {
          "allele": "A",
          "end": 338,
          "referenceAllele": "C",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.5:c.268C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Arg90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.268C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.268C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Arg90="
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Arg90="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "referenceAllele": "C",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.2:c.-288C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:n.-288C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.2:c.286C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Arg96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686043"
    }
  ],
  "type": "nucleotide"
}