{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344020124",
  "communityStandardTitle": [
    "NM_018136.5(ASPM):c.577C>G (p.Gln193Glu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197112805G>C?assembly=hg19",
        "id": "chr1:g.197112805G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197143675G>C?assembly=hg38",
        "id": "chr1:g.197143675G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199422134",
        "rs": 199422134
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-197112805-G-C?dataset=gnomad_r2_1",
        "id": "1-197112805-G-C",
        "variant": "1:197112805 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-197143675-G-C?dataset=gnomad_r4",
        "id": "1-197143675-G-C",
        "variant": "1:197143675 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 197143675,
          "referenceAllele": "G",
          "start": 197143674
        }
      ],
      "hgvs": [
        "NC_000001.11:g.197143675G>C",
        "CM000663.2:g.197143675G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 197112805,
          "referenceAllele": "G",
          "start": 197112804
        }
      ],
      "hgvs": [
        "NC_000001.10:g.197112805G>C",
        "CM000663.1:g.197112805G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 195379428,
          "referenceAllele": "G",
          "start": 195379427
        }
      ],
      "hgvs": [
        "NC_000001.9:g.195379428G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8020,
          "referenceAllele": "C",
          "start": 8019
        }
      ],
      "hgvs": [
        "NG_015867.1:g.8020C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002891"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "C",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000367409.9:c.577C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356379.4:p.Gln193Glu",
        "hgvsWellDefined": "ENSP00000356379.4:p.Gln193Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750003",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367409.9:c.577C>G"
          },
          "RefSeq": {
            "hgvs": "NM_018136.5:c.577C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356379.4:p.Gln193Glu"
          },
          "RefSeq": {
            "hgvs": "NP_060606.3:p.Gln193Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000679766.1:n.794C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "C",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000680265.1:c.577C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505384.1:p.Gln193Glu",
        "hgvsWellDefined": "ENSP00000505384.1:p.Gln193Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 577,
          "referenceAllele": "C",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000680710.1:c.577C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506676.1:p.Gln193Glu",
        "hgvsWellDefined": "ENSP00000506676.1:p.Gln193Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780325"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 577,
          "referenceAllele": "C",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000681879.1:c.577C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505363.1:p.Gln193Glu",
        "hgvsWellDefined": "ENSP00000505363.1:p.Gln193Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781480"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000294732.11:c.577C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294732.7:p.Gln193Glu",
        "hgvsWellDefined": "ENSP00000294732.7:p.Gln193Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253997"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000367409.8:c.577C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356379.4:p.Gln193Glu",
        "hgvsWellDefined": "ENSP00000356379.4:p.Gln193Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266371"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 818,
          "endIntronDirection": "+",
          "endIntronOffset": 16,
          "referenceAllele": "C",
          "start": 818,
          "startIntronDirection": "+",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000612785.1:c.561+16C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479244.1:n.561+16C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_001206846.1:c.577C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193775.1:p.Gln193Glu",
        "hgvsWellDefined": "NP_001193775.1:p.Gln193Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064003355",
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_018136.4:c.577C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060606.3:p.Gln193Glu",
        "hgvsWellDefined": "NP_060606.3:p.Gln193Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064003355",
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "C",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_018136.5:c.577C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060606.3:p.Gln193Glu",
        "hgvsWellDefined": "NP_060606.3:p.Gln193Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669526",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367409.9:c.577C>G"
          },
          "RefSeq": {
            "hgvs": "NM_018136.5:c.577C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356379.4:p.Gln193Glu"
          },
          "RefSeq": {
            "hgvs": "NP_060606.3:p.Gln193Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "C",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_001206846.2:c.577C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193775.1:p.Gln193Glu",
        "hgvsWellDefined": "NP_001193775.1:p.Gln193Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714237"
    }
  ],
  "type": "nucleotide"
}