{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8235030",
  "communityStandardTitle": [
    "NM_000512.5(GALNS):c.685T>C (p.Tyr229His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3005521[alleleid]",
        "alleleId": 3005521,
        "preferredName": "NM_000512.5(GALNS):c.685T>C (p.Tyr229His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2848279",
        "RCV": [
          "RCV003599704"
        ],
        "variationId": 2848279
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-88902206-A-G",
        "id": "16-88902206-A-G",
        "variant": "16:88902206 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88902206A>G?assembly=hg19",
        "id": "chr16:g.88902206A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88835798A>G?assembly=hg38",
        "id": "chr16:g.88835798A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151165725",
        "rs": 151165725
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88902206-A-G?dataset=gnomad_r2_1",
        "id": "16-88902206-A-G",
        "variant": "16:88902206 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88835798-A-G?dataset=gnomad_r3",
        "id": "16-88835798-A-G",
        "variant": "16:88835798 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88835798-A-G?dataset=gnomad_r4",
        "id": "16-88835798-A-G",
        "variant": "16:88835798 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88835798,
          "referenceAllele": "A",
          "start": 88835797
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88835798A>G",
        "CM000678.2:g.88835798A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88902206,
          "referenceAllele": "A",
          "start": 88902205
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88902206A>G",
        "CM000678.1:g.88902206A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 87429707,
          "referenceAllele": "A",
          "start": 87429706
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87429707A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 26169,
          "referenceAllele": "T",
          "start": 26168
        }
      ],
      "hgvs": [
        "NG_008667.1:g.26169T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001157"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 755,
          "referenceAllele": "T",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.10:c.685T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:p.Tyr229His",
        "hgvsWellDefined": "ENSP00000268695.5:p.Tyr229His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.685T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.685T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Tyr229His"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Tyr229His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 774,
          "referenceAllele": "T",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.9:c.685T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:p.Tyr229His",
        "hgvsWellDefined": "ENSP00000268695.5:p.Tyr229His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4094,
          "referenceAllele": "T",
          "start": 4093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562593.5:n.4094T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 566,
          "referenceAllele": "T",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562831.1:c.469T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455174.1:p.Tyr157His",
        "hgvsWellDefined": "ENSP00000455174.1:p.Tyr157His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "T",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562931.5:n.273T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377098"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "referenceAllele": "T",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000566563.1:n.387T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 366,
          "referenceAllele": "T",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000567525.5:c.366T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454484.1:n.366T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 804,
          "referenceAllele": "T",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000568613.5:c.804T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457921.1:n.804T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380908"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204540",
      "coordinates": [
        {
          "allele": "C",
          "end": 774,
          "referenceAllele": "T",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.4:c.685T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Tyr229His",
        "hgvsWellDefined": "NP_000503.1:p.Tyr229His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 774,
          "referenceAllele": "T",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.2:c.685T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:p.Tyr229His",
        "hgvsWellDefined": "XP_005256358.1:p.Tyr229His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "T",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256302.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256359.1:p.Tyr235His",
        "hgvsWellDefined": "XP_005256359.1:p.Tyr235His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "T",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:p.Tyr235His",
        "hgvsWellDefined": "XP_011521284.1:p.Tyr235His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "T",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522984.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521286.1:p.Tyr235His",
        "hgvsWellDefined": "XP_011521286.1:p.Tyr235His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741860901",
      "coordinates": [
        {
          "allele": "C",
          "end": 654,
          "referenceAllele": "T",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.1:c.130T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:p.Tyr44His",
        "hgvsWellDefined": "NP_001310472.1:p.Tyr44His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515441"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827194306",
      "coordinates": [
        {
          "allele": "C",
          "end": 948,
          "referenceAllele": "T",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Tyr235His",
        "hgvsWellDefined": "NP_001310473.1:p.Tyr235His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 774,
          "referenceAllele": "T",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.3:c.685T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:p.Tyr229His",
        "hgvsWellDefined": "XP_005256358.1:p.Tyr229His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "T",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.2:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:p.Tyr235His",
        "hgvsWellDefined": "XP_011521284.1:p.Tyr235His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3105,
          "referenceAllele": "T",
          "start": 3104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023111.2:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878600.1:p.Tyr235His",
        "hgvsWellDefined": "XP_016878600.1:p.Tyr235His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3105,
          "referenceAllele": "T",
          "start": 3104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023112.2:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878601.1:p.Tyr235His",
        "hgvsWellDefined": "XP_016878601.1:p.Tyr235His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 632,
          "referenceAllele": "T",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023113.1:c.130T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878602.1:p.Tyr44His",
        "hgvsWellDefined": "XP_016878602.1:p.Tyr44His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204540",
      "coordinates": [
        {
          "allele": "C",
          "end": 755,
          "referenceAllele": "T",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.5:c.685T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Tyr229His",
        "hgvsWellDefined": "NP_000503.1:p.Tyr229His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.685T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.685T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Tyr229His"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Tyr229His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741860901",
      "coordinates": [
        {
          "allele": "C",
          "end": 631,
          "referenceAllele": "T",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.2:c.130T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:p.Tyr44His",
        "hgvsWellDefined": "NP_001310472.1:p.Tyr44His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686042"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827194306",
      "coordinates": [
        {
          "allele": "C",
          "end": 925,
          "referenceAllele": "T",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.2:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Tyr235His",
        "hgvsWellDefined": "NP_001310473.1:p.Tyr235His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686043"
    }
  ],
  "type": "nucleotide"
}