{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2261611692",
  "communityStandardTitle": [
    "NM_002055.5(GFAP):c.994G= (p.Glu332=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607514",
        "rs": 267607514
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 44911369,
          "referenceAllele": "C",
          "start": 44911368
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44911369C=",
        "CM000679.2:g.44911369C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 42988737,
          "referenceAllele": "C",
          "start": 42988736
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42988737C=",
        "CM000679.1:g.42988737C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 40344263,
          "referenceAllele": "C",
          "start": 40344262
        }
      ],
      "hgvs": [
        "NC_000017.9:g.40344263C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9178,
          "referenceAllele": "G",
          "start": 9177
        }
      ],
      "hgvs": [
        "NG_008401.1:g.9178G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001080"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000253408.11:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253408.5:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823596"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000435360.8:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403962.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000253408.10:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253408.5:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741599"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000435360.7:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403962.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 147,
          "referenceAllele": "G",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000585543.6:n.147G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1523,
          "referenceAllele": "G",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000586127.6:n.1523G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 920,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 920,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000586793.6:c.907-48G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468500.2:n.907-48G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 470,
          "referenceAllele": "G",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000587997.6:n.470G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588735.3:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466598.2:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761134",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588735.3:c.994G="
          },
          "RefSeq": {
            "hgvs": "NM_002055.5:c.994G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000466598.2:p.Glu332="
          },
          "RefSeq": {
            "hgvs": "NP_002046.1:p.Glu332="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2148,
          "referenceAllele": "G",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000591327.2:n.2148G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 636,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 636,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000592320.6:c.619-48G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465320.1:n.619-48G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761278"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000638281.1:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491088.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000638618.1:c.649G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492832.1:p.Glu217="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000639277.1:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492432.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000640552.1:n.1008G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000253408.9:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253408.4:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 947,
          "referenceAllele": "G",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000376990.8:c.*393G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366189.4:n.*393G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000435360.6:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403962.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293488"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 147,
          "referenceAllele": "G",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000585543.5:n.147G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000586793.5:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468500.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 470,
          "referenceAllele": "G",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000587997.5:c.470G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 374,
          "referenceAllele": "G",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588640.5:n.374G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390922"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 96,
          "endIntronDirection": "-",
          "endIntronOffset": 3252,
          "referenceAllele": "G",
          "start": 96,
          "startIntronDirection": "-",
          "startIntronOffset": 3253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588735.1:c.83-3253G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466598.1:n.83-3253G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 636,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 636,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000592320.5:c.619-48G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465320.1:n.619-48G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001131019.2:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124491.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001242376.1:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229305.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084048172",
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_002055.4:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002046.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001363846.1:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350775.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450690.1:c.1198G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306458.1:p.Glu400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584222"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450691.1:c.1198G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306459.1:p.Glu400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450692.1:c.1198G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306460.1:p.Glu400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450693.1:c.1198G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306461.1:p.Glu400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084048172",
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_002055.5:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002046.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588735.3:c.994G="
          },
          "RefSeq": {
            "hgvs": "NM_002055.5:c.994G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000466598.2:p.Glu332="
          },
          "RefSeq": {
            "hgvs": "NP_002046.1:p.Glu332="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001131019.3:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124491.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001242376.2:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229305.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001242376.3:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229305.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714309"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001363846.2:c.994G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350775.1:p.Glu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720802"
    }
  ],
  "type": "nucleotide"
}