{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1143355003",
  "communityStandardTitle": [
    "NM_198576.4(AGRN):c.5125G= (p.Gly1709=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199476396",
        "rs": 199476396
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 1050575,
          "referenceAllele": "G",
          "start": 1050574
        }
      ],
      "hgvs": [
        "NC_000001.11:g.1050575G=",
        "CM000663.2:g.1050575G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 985955,
          "referenceAllele": "G",
          "start": 985954
        }
      ],
      "hgvs": [
        "NC_000001.10:g.985955G=",
        "CM000663.1:g.985955G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 975818,
          "referenceAllele": "G",
          "start": 975817
        }
      ],
      "hgvs": [
        "NC_000001.9:g.975818G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35453,
          "referenceAllele": "G",
          "start": 35452
        }
      ],
      "hgvs": [
        "NG_016346.1:g.35453G=",
        "LRG_198:g.35453G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003110"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5178,
          "referenceAllele": "G",
          "start": 5177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "ENST00000379370.7:c.5125G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368678.2:p.Gly1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752216",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379370.7:c.5125G="
          },
          "RefSeq": {
            "hgvs": "NM_198576.4:c.5125G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368678.2:p.Gly1709="
          },
          "RefSeq": {
            "hgvs": "NP_940978.2:p.Gly1709="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5260,
          "referenceAllele": "G",
          "start": 5259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "ENST00000651234.1:c.4810G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499046.1:p.Gly1604="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5260,
          "referenceAllele": "G",
          "start": 5259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "ENST00000652369.1:c.4810G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498543.1:p.Gly1604="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5175,
          "referenceAllele": "G",
          "start": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "ENST00000379370.6:c.5125G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368678.2:p.Gly1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20,
          "referenceAllele": "G",
          "start": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "ENST00000419249.1:c.20G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS285795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5175,
          "referenceAllele": "G",
          "start": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "ENST00000620552.4:c.4711G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484607.1:p.Gly1571="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404878"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5175,
          "referenceAllele": "G",
          "start": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "NM_001305275.1:c.5125G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001292204.1:p.Gly1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064003262",
      "coordinates": [
        {
          "allele": "G",
          "end": 5175,
          "referenceAllele": "G",
          "start": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "NM_198576.3:c.5125G="
      ],
      "proteinEffect": {
        "hgvs": "NP_940978.2:p.Gly1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5192,
          "referenceAllele": "G",
          "start": 5191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "XM_005244749.2:c.5125G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005244806.1:p.Gly1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS056980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5197,
          "referenceAllele": "G",
          "start": 5196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "XM_006710635.2:c.5125G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006710698.1:p.Gly1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5192,
          "referenceAllele": "G",
          "start": 5191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "XM_011541429.1:c.5125G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539731.1:p.Gly1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4316,
          "referenceAllele": "G",
          "start": 4315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "XM_011541430.1:c.4252G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539732.1:p.Gly1418="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4307,
          "referenceAllele": "G",
          "start": 4306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "XM_011541431.1:c.3391G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539733.1:p.Gly1131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5192,
          "referenceAllele": "G",
          "start": 5191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "XR_946650.1:n.5192G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5373,
          "referenceAllele": "G",
          "start": 5372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "NM_001364727.1:c.4810G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001351656.1:p.Gly1604="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5196,
          "referenceAllele": "G",
          "start": 5195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "XM_005244749.3:c.5125G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005244806.1:p.Gly1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532293"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5196,
          "referenceAllele": "G",
          "start": 5195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "XM_011541429.2:c.5125G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539731.1:p.Gly1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5196,
          "referenceAllele": "G",
          "start": 5195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "XR_946650.2:n.5196G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5178,
          "referenceAllele": "G",
          "start": 5177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "NM_001305275.2:c.5125G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001292204.1:p.Gly1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064003262",
      "coordinates": [
        {
          "allele": "G",
          "end": 5178,
          "referenceAllele": "G",
          "start": 5177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "NM_198576.4:c.5125G="
      ],
      "proteinEffect": {
        "hgvs": "NP_940978.2:p.Gly1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673160",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379370.7:c.5125G="
          },
          "RefSeq": {
            "hgvs": "NM_198576.4:c.5125G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368678.2:p.Gly1709="
          },
          "RefSeq": {
            "hgvs": "NP_940978.2:p.Gly1709="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5373,
          "referenceAllele": "G",
          "start": 5372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000329",
      "geneNCBI_id": 375790,
      "geneSymbol": "AGRN",
      "hgvs": [
        "NM_001364727.2:c.4810G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001351656.1:p.Gly1604="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690950"
    }
  ],
  "type": "nucleotide"
}