{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397094198",
  "communityStandardTitle": [
    "NM_000512.5(GALNS):c.1451C>T (p.Pro484Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1036133[alleleid]",
        "alleleId": 1036133,
        "preferredName": "NM_000512.5(GALNS):c.1451C>T (p.Pro484Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1048242",
        "RCV": [
          "RCV001578344"
        ],
        "variationId": 1048242
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88884446G>A?assembly=hg19",
        "id": "chr16:g.88884446G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88818038G>A?assembly=hg38",
        "id": "chr16:g.88818038G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1482155729",
        "rs": 1482155729
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 88818038,
          "referenceAllele": "G",
          "start": 88818037
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88818038G>A",
        "CM000678.2:g.88818038G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 88884446,
          "referenceAllele": "G",
          "start": 88884445
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88884446G>A",
        "CM000678.1:g.88884446G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 87411947,
          "referenceAllele": "G",
          "start": 87411946
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87411947G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43929,
          "referenceAllele": "C",
          "start": 43928
        }
      ],
      "hgvs": [
        "NG_008667.1:g.43929C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001157"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1521,
          "referenceAllele": "C",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.10:c.1451C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:p.Pro484Leu",
        "hgvsWellDefined": "ENSP00000268695.5:p.Pro484Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.1451C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.1451C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Pro484Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Pro484Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.9:c.1451C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:p.Pro484Leu",
        "hgvsWellDefined": "ENSP00000268695.5:p.Pro484Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4860,
          "referenceAllele": "C",
          "start": 4859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562593.5:n.4860C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1132,
          "referenceAllele": "C",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000567525.5:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454484.1:n.1132C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1570,
          "referenceAllele": "C",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000568613.5:c.1570C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457921.1:n.1570C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380908"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204915",
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.4:c.1451C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Pro484Leu",
        "hgvsWellDefined": "NP_000503.1:p.Pro484Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.2:c.1451C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:p.Pro484Leu",
        "hgvsWellDefined": "XP_005256358.1:p.Pro484Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "referenceAllele": "C",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256302.1:c.1469C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256359.1:p.Pro490Leu",
        "hgvsWellDefined": "XP_005256359.1:p.Pro490Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "referenceAllele": "C",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.1:c.1469C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:p.Pro490Leu",
        "hgvsWellDefined": "XP_011521284.1:p.Pro490Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "referenceAllele": "C",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522984.1:c.1469C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521286.1:p.Pro490Leu",
        "hgvsWellDefined": "XP_011521286.1:p.Pro490Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827194143",
      "coordinates": [
        {
          "allele": "T",
          "end": 1420,
          "referenceAllele": "C",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.1:c.896C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:p.Pro299Leu",
        "hgvsWellDefined": "NP_001310472.1:p.Pro299Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515441"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499249223",
      "coordinates": [
        {
          "allele": "T",
          "end": 1714,
          "referenceAllele": "C",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.1:c.1469C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Pro490Leu",
        "hgvsWellDefined": "NP_001310473.1:p.Pro490Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.3:c.1451C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:p.Pro484Leu",
        "hgvsWellDefined": "XP_005256358.1:p.Pro484Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "referenceAllele": "C",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.2:c.1469C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:p.Pro490Leu",
        "hgvsWellDefined": "XP_011521284.1:p.Pro490Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3871,
          "referenceAllele": "C",
          "start": 3870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023111.2:c.1469C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878600.1:p.Pro490Leu",
        "hgvsWellDefined": "XP_016878600.1:p.Pro490Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3871,
          "referenceAllele": "C",
          "start": 3870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023112.2:c.1469C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878601.1:p.Pro490Leu",
        "hgvsWellDefined": "XP_016878601.1:p.Pro490Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1398,
          "referenceAllele": "C",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023113.1:c.896C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878602.1:p.Pro299Leu",
        "hgvsWellDefined": "XP_016878602.1:p.Pro299Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204915",
      "coordinates": [
        {
          "allele": "T",
          "end": 1521,
          "referenceAllele": "C",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.5:c.1451C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Pro484Leu",
        "hgvsWellDefined": "NP_000503.1:p.Pro484Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.1451C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.1451C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Pro484Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Pro484Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827194143",
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "C",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.2:c.896C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:p.Pro299Leu",
        "hgvsWellDefined": "NP_001310472.1:p.Pro299Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686042"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499249223",
      "coordinates": [
        {
          "allele": "T",
          "end": 1691,
          "referenceAllele": "C",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.2:c.1469C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Pro490Leu",
        "hgvsWellDefined": "NP_001310473.1:p.Pro490Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686043"
    }
  ],
  "type": "nucleotide"
}