{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2261611630",
  "communityStandardTitle": [
    "NM_002055.5(GFAP):c.1126C= (p.Arg376=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607512",
        "rs": 267607512
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 44911237,
          "referenceAllele": "G",
          "start": 44911236
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44911237G=",
        "CM000679.2:g.44911237G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 42988605,
          "referenceAllele": "G",
          "start": 42988604
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42988605G=",
        "CM000679.1:g.42988605G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 40344131,
          "referenceAllele": "G",
          "start": 40344130
        }
      ],
      "hgvs": [
        "NC_000017.9:g.40344131G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9310,
          "referenceAllele": "C",
          "start": 9309
        }
      ],
      "hgvs": [
        "NG_008401.1:g.9310C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001080"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000253408.11:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253408.5:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823596"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000435360.8:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403962.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000253408.10:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253408.5:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741599"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000435360.7:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403962.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000585543.6:n.279C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 61,
          "referenceAllele": "C",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000586125.2:c.61C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467397.2:p.Arg21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1655,
          "referenceAllele": "C",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000586127.6:n.1655C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1005,
          "referenceAllele": "C",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000586793.6:c.991C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468500.2:p.Arg331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761054"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000587997.6:n.602C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588735.3:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466598.2:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761134",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588735.3:c.1126C="
          },
          "RefSeq": {
            "hgvs": "NM_002055.5:c.1126C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000466598.2:p.Arg376="
          },
          "RefSeq": {
            "hgvs": "NP_002046.1:p.Arg376="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2280,
          "referenceAllele": "C",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000591327.2:n.2280C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 56,
          "referenceAllele": "C",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000591880.2:c.56C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000592320.6:c.703C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465320.1:p.Arg235="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761278"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1126,
          "referenceAllele": "C",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000638281.1:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491088.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 45,
          "referenceAllele": "C",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000638304.1:c.45C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67,
          "referenceAllele": "C",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000638488.1:n.67C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000638618.1:c.781C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492832.1:p.Arg261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 63,
          "referenceAllele": "C",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000639042.1:c.63C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000639277.1:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492432.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83,
          "referenceAllele": "C",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000639921.1:c.83C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000640552.1:n.1140C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000253408.9:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253408.4:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000435360.6:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403962.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000585543.5:n.279C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388793"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000586793.5:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468500.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588640.5:n.506C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390922"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 96,
          "endIntronDirection": "-",
          "endIntronOffset": 3120,
          "referenceAllele": "C",
          "start": 96,
          "startIntronDirection": "-",
          "startIntronOffset": 3121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588735.1:c.83-3121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466598.1:n.83-3121C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000592320.5:c.703C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465320.1:p.Arg235="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825774585",
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001131019.2:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124491.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826298212",
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001242376.1:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229305.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829353280",
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_002055.4:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002046.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027381"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828120422",
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001363846.1:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350775.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523597"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1396,
          "referenceAllele": "C",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450690.1:c.1330C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306458.1:p.Arg444="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1396,
          "referenceAllele": "C",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450691.1:c.1330C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306459.1:p.Arg444="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1396,
          "referenceAllele": "C",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450692.1:c.1330C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306460.1:p.Arg444="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1396,
          "referenceAllele": "C",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450693.1:c.1330C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306461.1:p.Arg444="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829353280",
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_002055.5:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002046.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588735.3:c.1126C="
          },
          "RefSeq": {
            "hgvs": "NM_002055.5:c.1126C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000466598.2:p.Arg376="
          },
          "RefSeq": {
            "hgvs": "NP_002046.1:p.Arg376="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825774585",
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001131019.3:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124491.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677194"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826298212",
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001242376.2:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229305.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826298212",
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001242376.3:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229305.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828120422",
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001363846.2:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350775.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720802"
    }
  ],
  "type": "nucleotide"
}