{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA120280",
  "communityStandardTitle": [
    "NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24322[alleleid]",
        "alleleId": 24322,
        "preferredName": "NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9283",
        "RCV": [
          "RCV000009865",
          "RCV000525589",
          "RCV000517539",
          "RCV000989227",
          "RCV002255090",
          "RCV002508114",
          "RCV002512951"
        ],
        "variationId": 9283
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-55310817-T-C",
        "id": "14-55310817-T-C",
        "variant": "14:55310817 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.55310817T>C?assembly=hg19",
        "id": "chr14:g.55310817T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.54844099T>C?assembly=hg38",
        "id": "chr14:g.54844099T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/41298442",
        "rs": 41298442
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-55310817-T-C?dataset=gnomad_r2_1",
        "id": "14-55310817-T-C",
        "variant": "14:55310817 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-54844099-T-C?dataset=gnomad_r3",
        "id": "14-54844099-T-C",
        "variant": "14:54844099 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-54844099-T-C?dataset=gnomad_r4",
        "id": "14-54844099-T-C",
        "variant": "14:54844099 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 54844099,
          "referenceAllele": "T",
          "start": 54844098
        }
      ],
      "hgvs": [
        "NC_000014.9:g.54844099T>C",
        "CM000676.2:g.54844099T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 55310817,
          "referenceAllele": "T",
          "start": 55310816
        }
      ],
      "hgvs": [
        "NC_000014.8:g.55310817T>C",
        "CM000676.1:g.55310817T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 54380567,
          "referenceAllele": "T",
          "start": 54380566
        }
      ],
      "hgvs": [
        "NC_000014.7:g.54380567T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63726,
          "referenceAllele": "A",
          "start": 63725
        }
      ],
      "hgvs": [
        "NG_008647.1:g.63726A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001142"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "A",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000491895.7:c.671A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419045.2:p.Lys224Arg",
        "hgvsWellDefined": "ENSP00000419045.2:p.Lys224Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757692",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000491895.7:c.671A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000161.3:c.671A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419045.2:p.Lys224Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000152.1:p.Lys224Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "A",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000254299.8:n.819A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS249996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "A",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000395514.5:c.671A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378890.1:p.Lys224Arg",
        "hgvsWellDefined": "ENSP00000378890.1:p.Lys224Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 292,
          "endIntronDirection": "-",
          "endIntronOffset": 1044,
          "referenceAllele": "A",
          "start": 292,
          "startIntronDirection": "-",
          "startIntronOffset": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000395521.6:n.293-1045A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS276732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "A",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000491895.6:c.671A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419045.2:p.Lys224Arg",
        "hgvsWellDefined": "ENSP00000419045.2:p.Lys224Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329405"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "endIntronDirection": "-",
          "endIntronOffset": 1044,
          "referenceAllele": "A",
          "start": 779,
          "startIntronDirection": "-",
          "startIntronOffset": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000536224.2:c.627-1045A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445246.2:n.627-1045A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "endIntronDirection": "-",
          "endIntronOffset": 229,
          "referenceAllele": "A",
          "start": 770,
          "startIntronDirection": "-",
          "startIntronOffset": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000543643.6:c.627-230A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444011.2:n.627-230A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "A",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "ENST00000622544.4:c.671A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477796.1:p.Lys224Arg",
        "hgvsWellDefined": "ENSP00000477796.1:p.Lys224Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405780"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095977",
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "A",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_000161.2:c.671A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000152.1:p.Lys224Arg",
        "hgvsWellDefined": "NP_000152.1:p.Lys224Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915956688",
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "A",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_001024024.1:c.671A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019195.1:p.Lys224Arg",
        "hgvsWellDefined": "NP_001019195.1:p.Lys224Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 787,
          "endIntronDirection": "-",
          "endIntronOffset": 229,
          "referenceAllele": "A",
          "start": 787,
          "startIntronDirection": "-",
          "startIntronOffset": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_001024070.1:c.627-230A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019241.1:n.627-230A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 787,
          "endIntronDirection": "-",
          "endIntronOffset": 1044,
          "referenceAllele": "A",
          "start": 787,
          "startIntronDirection": "-",
          "startIntronOffset": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_001024071.1:c.627-1045A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019242.1:n.627-1045A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008736"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 848,
          "endIntronDirection": "-",
          "endIntronOffset": 229,
          "referenceAllele": "A",
          "start": 848,
          "startIntronDirection": "-",
          "startIntronOffset": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "XM_005267530.1:c.627-230A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267587.1:n.627-230A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "referenceAllele": "A",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "XM_017021218.1:c.377A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876707.1:p.Lys126Arg",
        "hgvsWellDefined": "XP_016876707.1:p.Lys126Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095977",
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "A",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_000161.3:c.671A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000152.1:p.Lys224Arg",
        "hgvsWellDefined": "NP_000152.1:p.Lys224Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662334",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000491895.7:c.671A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000161.3:c.671A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419045.2:p.Lys224Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000152.1:p.Lys224Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 229,
          "referenceAllele": "A",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_001024070.2:c.627-230A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019241.1:n.627-230A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 1044,
          "referenceAllele": "A",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_001024071.2:c.627-1045A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019242.1:n.627-1045A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915956688",
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "A",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004193",
      "geneNCBI_id": 2643,
      "geneSymbol": "GCH1",
      "hgvs": [
        "NM_001024024.2:c.671A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019195.1:p.Lys224Arg",
        "hgvsWellDefined": "NP_001019195.1:p.Lys224Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711428"
    }
  ],
  "type": "nucleotide"
}