{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115053",
  "communityStandardTitle": [
    "NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16609[alleleid]",
        "alleleId": 16609,
        "preferredName": "NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1570",
        "RCV": [
          "RCV000001636",
          "RCV001851559",
          "RCV003894784"
        ],
        "variationId": 1570
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.40693145C>G?assembly=hg19",
        "id": "chr17:g.40693145C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42541127C>G?assembly=hg38",
        "id": "chr17:g.42541127C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204025",
        "rs": 118204025
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-40693145-C-G?dataset=gnomad_r2_1",
        "id": "17-40693145-C-G",
        "variant": "17:40693145 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42541127-C-G?dataset=gnomad_r4",
        "id": "17-42541127-C-G",
        "variant": "17:42541127 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 42541127,
          "referenceAllele": "C",
          "start": 42541126
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42541127C>G",
        "CM000679.2:g.42541127C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 40693145,
          "referenceAllele": "C",
          "start": 40693144
        }
      ],
      "hgvs": [
        "NC_000017.10:g.40693145C>G",
        "CM000679.1:g.40693145C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 37946671,
          "referenceAllele": "C",
          "start": 37946670
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37946671C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10195,
          "referenceAllele": "C",
          "start": 10194
        }
      ],
      "hgvs": [
        "NG_011552.1:g.10195C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001811"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "ENST00000225927.7:c.942C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225927.1:p.Phe314Leu",
        "hgvsWellDefined": "ENSP00000225927.1:p.Phe314Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740682",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225927.7:c.942C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000263.4:c.942C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225927.1:p.Phe314Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000254.2:p.Phe314Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1043,
          "referenceAllele": "C",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "ENST00000225927.6:c.942C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225927.1:p.Phe314Leu",
        "hgvsWellDefined": "ENSP00000225927.1:p.Phe314Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "endIntronDirection": "-",
          "endIntronOffset": 1900,
          "referenceAllele": "C",
          "start": 359,
          "startIntronDirection": "-",
          "startIntronOffset": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "ENST00000591587.1:c.360-1901C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467836.1:n.360-1901C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392972"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37,
          "referenceAllele": "C",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "ENST00000592454.1:c.37C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100727",
      "coordinates": [
        {
          "allele": "G",
          "end": 1282,
          "referenceAllele": "C",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "NM_000263.3:c.942C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000254.2:p.Phe314Leu",
        "hgvsWellDefined": "NP_000254.2:p.Phe314Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006325"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "XM_006721920.2:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721983.1:p.Phe37Leu",
        "hgvsWellDefined": "XP_006721983.1:p.Phe37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 497,
          "endIntronDirection": "-",
          "endIntronOffset": 1900,
          "referenceAllele": "C",
          "start": 497,
          "startIntronDirection": "-",
          "startIntronOffset": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "XM_011524840.1:c.23-1901C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523142.1:n.23-1901C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091960"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 930,
          "referenceAllele": "C",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "XM_017024687.1:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880176.1:p.Phe37Leu",
        "hgvsWellDefined": "XP_016880176.1:p.Phe37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3034,
          "referenceAllele": "C",
          "start": 3033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "XM_024450771.1:c.999C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306539.1:p.Phe333Leu",
        "hgvsWellDefined": "XP_024306539.1:p.Phe333Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 841,
          "endIntronDirection": "-",
          "endIntronOffset": 1900,
          "referenceAllele": "C",
          "start": 841,
          "startIntronDirection": "-",
          "startIntronOffset": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "XM_024450772.1:c.23-1901C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306540.1:n.23-1901C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584302"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100727",
      "coordinates": [
        {
          "allele": "G",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "NM_000263.4:c.942C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000254.2:p.Phe314Leu",
        "hgvsWellDefined": "NP_000254.2:p.Phe314Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225927.7:c.942C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000263.4:c.942C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225927.1:p.Phe314Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000254.2:p.Phe314Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}