{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA389793709",
  "communityStandardTitle": [
    "NM_000161.3(GCH1):c.275T>C (p.Leu92Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2405246[alleleid]",
        "alleleId": 2405246,
        "preferredName": "NM_000161.3(GCH1):c.275T>C (p.Leu92Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2431742",
        "RCV": [
          "RCV003142379"
        ],
        "variationId": 2431742
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.55369107A>G?assembly=hg19",
        "id": "chr14:g.55369107A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.54902389A>G?assembly=hg38",
        "id": "chr14:g.54902389A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2504539308",
        "rs": 2504539308
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 54902389,
          "referenceAllele": "A",
          "start": 54902388
        }
      ],
      "hgvs": [
        "NC_000014.9:g.54902389A>G",
        "CM000676.2:g.54902389A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 55369107,
          "referenceAllele": "A",
          "start": 55369106
        }
      ],
      "hgvs": [
        "NC_000014.8:g.55369107A>G",
        "CM000676.1:g.55369107A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 54438857,
          "referenceAllele": "A",
          "start": 54438856
        }
      ],
      "hgvs": [
        "NC_000014.7:g.54438857A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5436,
          "referenceAllele": "T",
          "start": 5435
        }
      ],
      "hgvs": [
        "NG_008647.1:g.5436T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001142"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000491895.7:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419045.2:p.Leu92Pro",
        "hgvsWellDefined": "ENSP00000419045.2:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757692",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000491895.7:c.275T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000161.3:c.275T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419045.2:p.Leu92Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000152.1:p.Leu92Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "referenceAllele": "T",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000254299.8:n.423T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS249996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000395514.5:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378890.1:p.Leu92Pro",
        "hgvsWellDefined": "ENSP00000378890.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 58,
          "referenceAllele": "T",
          "start": 57
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000395521.6:n.58T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS276732"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 464,
          "referenceAllele": "T",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000491895.6:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419045.2:p.Leu92Pro",
        "hgvsWellDefined": "ENSP00000419045.2:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 428,
          "referenceAllele": "T",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000536224.2:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445246.2:p.Leu92Pro",
        "hgvsWellDefined": "ENSP00000445246.2:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 419,
          "referenceAllele": "T",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000543643.6:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444011.2:p.Leu92Pro",
        "hgvsWellDefined": "ENSP00000444011.2:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364114"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000622544.4:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477796.1:p.Leu92Pro",
        "hgvsWellDefined": "ENSP00000477796.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405780"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825070645",
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_000161.2:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000152.1:p.Leu92Pro",
        "hgvsWellDefined": "NP_000152.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825331886",
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_001024024.1:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019195.1:p.Leu92Pro",
        "hgvsWellDefined": "NP_001019195.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825332132",
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_001024070.1:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019241.1:p.Leu92Pro",
        "hgvsWellDefined": "NP_001019241.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580132621",
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_001024071.1:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019242.1:p.Leu92Pro",
        "hgvsWellDefined": "NP_001019242.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 497,
          "referenceAllele": "T",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "XM_005267530.1:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267587.1:p.Leu92Pro",
        "hgvsWellDefined": "XP_005267587.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 497,
          "referenceAllele": "T",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "XM_011536643.1:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534945.1:p.Leu92Pro",
        "hgvsWellDefined": "XP_011534945.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825070645",
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_000161.3:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000152.1:p.Leu92Pro",
        "hgvsWellDefined": "NP_000152.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662334",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000491895.7:c.275T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000161.3:c.275T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419045.2:p.Leu92Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000152.1:p.Leu92Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825332132",
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_001024070.2:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019241.1:p.Leu92Pro",
        "hgvsWellDefined": "NP_001019241.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580132621",
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_001024071.2:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019242.1:p.Leu92Pro",
        "hgvsWellDefined": "NP_001019242.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825331886",
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_001024024.2:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019195.1:p.Leu92Pro",
        "hgvsWellDefined": "NP_001019195.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711428"
    }
  ],
  "type": "nucleotide"
}