{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA217138",
  "communityStandardTitle": [
    "NM_002055.5(GFAP):c.1193C>A (p.Ser398Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77350[alleleid]",
        "alleleId": 77350,
        "preferredName": "NM_002055.5(GFAP):c.1193C>A (p.Ser398Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66453",
        "RCV": [
          "RCV000056847",
          "RCV000192184"
        ],
        "variationId": 66453
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42985496G>T?assembly=hg19",
        "id": "chr17:g.42985496G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44908128G>T?assembly=hg38",
        "id": "chr17:g.44908128G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607508",
        "rs": 267607508
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44908128,
          "referenceAllele": "G",
          "start": 44908127
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44908128G>T",
        "CM000679.2:g.44908128G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42985496,
          "referenceAllele": "G",
          "start": 42985495
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42985496G>T",
        "CM000679.1:g.42985496G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 40341022,
          "referenceAllele": "G",
          "start": 40341021
        }
      ],
      "hgvs": [
        "NC_000017.9:g.40341022G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12419,
          "referenceAllele": "C",
          "start": 12418
        }
      ],
      "hgvs": [
        "NG_008401.1:g.12419C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001080"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1327,
          "referenceAllele": "C",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000253408.11:c.1313C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253408.5:p.Ser438Tyr",
        "hgvsWellDefined": "ENSP00000253408.5:p.Ser438Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1327,
          "referenceAllele": "C",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000253408.10:c.1313C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253408.5:p.Ser438Tyr",
        "hgvsWellDefined": "ENSP00000253408.5:p.Ser438Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46,
          "referenceAllele": "C",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000441312.2:n.46C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "referenceAllele": "C",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000585543.6:n.346C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 128,
          "referenceAllele": "C",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000586125.2:c.128C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467397.2:p.Ser43Tyr",
        "hgvsWellDefined": "ENSP00000467397.2:p.Ser43Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1207,
          "referenceAllele": "C",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588735.3:c.1193C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466598.2:p.Ser398Tyr",
        "hgvsWellDefined": "ENSP00000466598.2:p.Ser398Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761134",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588735.3:c.1193C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002055.5:c.1193C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000466598.2:p.Ser398Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_002046.1:p.Ser398Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2100,
          "referenceAllele": "C",
          "start": 2099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000589701.2:n.2100C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 292,
          "referenceAllele": "C",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000591880.2:c.292C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000592065.2:n.561C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "referenceAllele": "C",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000638304.1:c.112C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28,
          "referenceAllele": "C",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000638400.1:c.28C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000638488.1:n.657C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000638618.1:c.848C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492832.1:p.Ser283Tyr",
        "hgvsWellDefined": "ENSP00000492832.1:p.Ser283Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764619"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 120,
          "referenceAllele": "C",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000638921.1:n.120C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000639042.1:c.165C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1207,
          "referenceAllele": "C",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000639277.1:c.1193C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492432.1:p.Ser398Tyr",
        "hgvsWellDefined": "ENSP00000492432.1:p.Ser398Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43,
          "referenceAllele": "C",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000639369.1:c.43C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7,
          "referenceAllele": "C",
          "start": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000640859.1:c.7C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000253408.9:c.1193C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253408.4:p.Ser398Tyr",
        "hgvsWellDefined": "ENSP00000253408.4:p.Ser398Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "referenceAllele": "C",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000585543.5:n.346C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 164,
          "referenceAllele": "C",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000586125.1:c.164C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467397.1:p.Ser55Tyr",
        "hgvsWellDefined": "ENSP00000467397.1:p.Ser55Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "C",
          "start": 96,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588735.1:c.83-12C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466598.1:n.83-12C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 95,
          "referenceAllele": "C",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000589701.1:n.95C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "referenceAllele": "C",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000591880.1:c.59C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467530.1:p.Ser20Tyr",
        "hgvsWellDefined": "ENSP00000467530.1:p.Ser20Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 65,
          "referenceAllele": "C",
          "start": 64
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000592706.5:n.65C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393755"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217139",
      "coordinates": [
        {
          "allele": "A",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_002055.4:c.1193C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002046.1:p.Ser398Tyr",
        "hgvsWellDefined": "NP_002046.1:p.Ser398Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027381"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044546",
      "coordinates": [
        {
          "allele": "A",
          "end": 1379,
          "referenceAllele": "C",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001363846.1:c.1313C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350775.1:p.Ser438Tyr",
        "hgvsWellDefined": "NP_001350775.1:p.Ser438Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1583,
          "referenceAllele": "C",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450690.1:c.1517C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306458.1:p.Ser506Tyr",
        "hgvsWellDefined": "XP_024306458.1:p.Ser506Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1463,
          "referenceAllele": "C",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450692.1:c.1397C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306460.1:p.Ser466Tyr",
        "hgvsWellDefined": "XP_024306460.1:p.Ser466Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217139",
      "coordinates": [
        {
          "allele": "A",
          "end": 1207,
          "referenceAllele": "C",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_002055.5:c.1193C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002046.1:p.Ser398Tyr",
        "hgvsWellDefined": "NP_002046.1:p.Ser398Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588735.3:c.1193C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002055.5:c.1193C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000466598.2:p.Ser398Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_002046.1:p.Ser398Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044546",
      "coordinates": [
        {
          "allele": "A",
          "end": 1327,
          "referenceAllele": "C",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001363846.2:c.1313C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350775.1:p.Ser438Tyr",
        "hgvsWellDefined": "NP_001350775.1:p.Ser438Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720802"
    }
  ],
  "type": "nucleotide"
}