{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658795243",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.1194+5G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=920384[alleleid]",
        "alleleId": 920384,
        "preferredName": "NM_000152.5(GAA):c.1194+5G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/930445",
        "RCV": [
          "RCV001196112"
        ],
        "variationId": 930445
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2039153749",
        "rs": 2039153749
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80108612-G-A?dataset=gnomad_r4",
        "id": "17-80108612-G-A",
        "variant": "17:80108612 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 80108612,
          "referenceAllele": "G",
          "start": 80108611
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80108612G>A",
        "CM000679.2:g.80108612G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 78082411,
          "referenceAllele": "G",
          "start": 78082410
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78082411G>A",
        "CM000679.1:g.78082411G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 75697006,
          "referenceAllele": "G",
          "start": 75697005
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75697006G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12057,
          "referenceAllele": "G",
          "start": 12056
        }
      ],
      "hgvs": [
        "NG_009822.1:g.12057G>A",
        "LRG_673:g.12057G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1319,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1319,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1349,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1349,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1391,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1391,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1536,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1536,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1194+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1194+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:n.1194+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:n.1194+5G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1413,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1413,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1338,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1338,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1561,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1561,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.1194+5G>A",
        "LRG_673t1:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1376,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1376,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1296,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1296,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1407,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1407,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1436,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1436,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1591,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1591,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1406,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1406,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1326,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1392,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1392,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1432,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1432,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1536,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1536,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1194+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1194+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:n.1194+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:n.1194+5G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1351,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1271,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1271,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.1194+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:n.1194+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}