{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414920495",
  "communityStandardTitle": [
    "NM_000132.4(F8):c.112A>G (p.Ser38Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154250716T>C?assembly=hg19",
        "id": "chrX:g.154250716T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.155022441T>C?assembly=hg38",
        "id": "chrX:g.155022441T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 155022441,
          "referenceAllele": "T",
          "start": 155022440
        }
      ],
      "hgvs": [
        "NC_000023.11:g.155022441T>C",
        "CM000685.2:g.155022441T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 154250716,
          "referenceAllele": "T",
          "start": 154250715
        }
      ],
      "hgvs": [
        "NC_000023.10:g.154250716T>C",
        "CM000685.1:g.154250716T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153903910,
          "referenceAllele": "T",
          "start": 153903909
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153903910T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5283,
          "referenceAllele": "A",
          "start": 5282
        }
      ],
      "hgvs": [
        "NG_011403.1:g.5283A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5283,
          "referenceAllele": "A",
          "start": 5282
        }
      ],
      "hgvs": [
        "NG_011403.2:g.5283A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 283,
          "referenceAllele": "A",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.9:c.112A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Ser38Gly",
        "hgvsWellDefined": "ENSP00000353393.4:p.Ser38Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.112A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.112A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Ser38Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Ser38Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275,
          "referenceAllele": "A",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000647125.1:c.112A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496062.1:p.Ser38Gly",
        "hgvsWellDefined": "ENSP00000496062.1:p.Ser38Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769248"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 313,
          "referenceAllele": "A",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.8:c.112A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Ser38Gly",
        "hgvsWellDefined": "ENSP00000353393.4:p.Ser38Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265065"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 161,
          "endIntronDirection": "+",
          "endIntronOffset": 4339,
          "referenceAllele": "A",
          "start": 161,
          "startIntronDirection": "+",
          "startIntronOffset": 4338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000423959.5:c.38+4339A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409446.1:n.38+4339A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 145,
          "referenceAllele": "A",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000453950.1:c.94A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389153.1:p.Ser32Gly",
        "hgvsWellDefined": "ENSP00000389153.1:p.Ser32Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 283,
          "referenceAllele": "A",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.3:c.112A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Ser38Gly",
        "hgvsWellDefined": "NP_000123.1:p.Ser38Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 155,
          "endIntronDirection": "+",
          "endIntronOffset": 4339,
          "referenceAllele": "A",
          "start": 155,
          "startIntronDirection": "+",
          "startIntronOffset": 4338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "XM_011531126.1:c.38+4339A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529428.1:n.38+4339A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 283,
          "referenceAllele": "A",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.4:c.112A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Ser38Gly",
        "hgvsWellDefined": "NP_000123.1:p.Ser38Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.112A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.112A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Ser38Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Ser38Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}