{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115549",
  "communityStandardTitle": [
    "NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17471[alleleid]",
        "alleleId": 17471,
        "preferredName": "NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2432",
        "RCV": [
          "RCV000002534"
        ],
        "variationId": 2432
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42084979T>C?assembly=hg19",
        "id": "chr17:g.42084979T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44007611T>C?assembly=hg38",
        "id": "chr17:g.44007611T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894605",
        "rs": 104894605
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 44007611,
          "referenceAllele": "T",
          "start": 44007610
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44007611T>C",
        "CM000679.2:g.44007611T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 42084979,
          "referenceAllele": "T",
          "start": 42084978
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42084979T>C",
        "CM000679.1:g.42084979T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 39440505,
          "referenceAllele": "T",
          "start": 39440504
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39440505T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7948,
          "referenceAllele": "T",
          "start": 7947
        }
      ],
      "hgvs": [
        "NG_008106.1:g.7948T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1859,
          "referenceAllele": "A",
          "start": 1858
        }
      ],
      "hgvs": [
        "NG_023338.1:g.1859A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003807"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1331,
          "referenceAllele": "T",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017996",
      "geneNCBI_id": 162417,
      "geneSymbol": "NAGS",
      "hgvs": [
        "ENST00000293404.8:c.1289T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293404.2:p.Leu430Pro",
        "hgvsWellDefined": "ENSP00000293404.2:p.Leu430Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744164",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293404.8:c.1289T>C"
          },
          "RefSeq": {
            "hgvs": "NM_153006.3:c.1289T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293404.2:p.Leu430Pro"
          },
          "RefSeq": {
            "hgvs": "NP_694551.1:p.Leu430Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "referenceAllele": "T",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017996",
      "geneNCBI_id": 162417,
      "geneSymbol": "NAGS",
      "hgvs": [
        "ENST00000293404.7:c.1289T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293404.2:p.Leu430Pro",
        "hgvsWellDefined": "ENSP00000293404.2:p.Leu430Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1220,
          "referenceAllele": "T",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017996",
      "geneNCBI_id": 162417,
      "geneSymbol": "NAGS",
      "hgvs": [
        "ENST00000589767.1:c.1220T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465408.1:p.Leu407Pro",
        "hgvsWellDefined": "ENSP00000465408.1:p.Leu407Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1177,
          "referenceAllele": "T",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017996",
      "geneNCBI_id": 162417,
      "geneSymbol": "NAGS",
      "hgvs": [
        "ENST00000592915.1:n.1177T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393893"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101648",
      "coordinates": [
        {
          "allele": "C",
          "end": 1289,
          "referenceAllele": "T",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017996",
      "geneNCBI_id": 162417,
      "geneSymbol": "NAGS",
      "hgvs": [
        "NM_153006.2:c.1289T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_694551.1:p.Leu430Pro",
        "hgvsWellDefined": "NP_694551.1:p.Leu430Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1386,
          "endIntronDirection": "+",
          "endIntronOffset": 117,
          "referenceAllele": "T",
          "start": 1386,
          "startIntronDirection": "+",
          "startIntronOffset": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017996",
      "geneNCBI_id": 162417,
      "geneSymbol": "NAGS",
      "hgvs": [
        "XM_011524438.1:c.1268+117T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522740.1:n.1268+117T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1071,
          "referenceAllele": "T",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017996",
      "geneNCBI_id": 162417,
      "geneSymbol": "NAGS",
      "hgvs": [
        "XM_011524439.1:c.791T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522741.1:p.Leu264Pro",
        "hgvsWellDefined": "XP_011522741.1:p.Leu264Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 689,
          "endIntronDirection": "+",
          "endIntronOffset": 15961,
          "referenceAllele": "A",
          "start": 689,
          "startIntronDirection": "+",
          "startIntronOffset": 15960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009748",
      "geneNCBI_id": 5697,
      "geneSymbol": "PYY",
      "hgvs": [
        "XM_011525035.1:c.-463+15961A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523337.1:n.-463+15961A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1179,
          "referenceAllele": "T",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017996",
      "geneNCBI_id": 162417,
      "geneSymbol": "NAGS",
      "hgvs": [
        "XM_011524439.2:c.791T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522741.1:p.Leu264Pro",
        "hgvsWellDefined": "XP_011522741.1:p.Leu264Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101648",
      "coordinates": [
        {
          "allele": "C",
          "end": 1331,
          "referenceAllele": "T",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017996",
      "geneNCBI_id": 162417,
      "geneSymbol": "NAGS",
      "hgvs": [
        "NM_153006.3:c.1289T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_694551.1:p.Leu430Pro",
        "hgvsWellDefined": "NP_694551.1:p.Leu430Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700307",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293404.8:c.1289T>C"
          },
          "RefSeq": {
            "hgvs": "NM_153006.3:c.1289T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293404.2:p.Leu430Pro"
          },
          "RefSeq": {
            "hgvs": "NP_694551.1:p.Leu430Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}