{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349894343",
  "communityStandardTitle": [
    "NM_014362.4(HIBCH):c.939A>T (p.Gln313His)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.191077754T>A?assembly=hg19",
        "id": "chr2:g.191077754T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.190213028T>A?assembly=hg38",
        "id": "chr2:g.190213028T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 190213028,
          "referenceAllele": "T",
          "start": 190213027
        }
      ],
      "hgvs": [
        "NC_000002.12:g.190213028T>A",
        "CM000664.2:g.190213028T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 191077754,
          "referenceAllele": "T",
          "start": 191077753
        }
      ],
      "hgvs": [
        "NC_000002.11:g.191077754T>A",
        "CM000664.1:g.191077754T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 190785999,
          "referenceAllele": "T",
          "start": 190785998
        }
      ],
      "hgvs": [
        "NC_000002.10:g.190785999T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112018,
          "referenceAllele": "A",
          "start": 112017
        }
      ],
      "hgvs": [
        "NG_017062.1:g.112018A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003398"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "A",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "ENST00000359678.10:c.939A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352706.5:p.Gln313His",
        "hgvsWellDefined": "ENSP00000352706.5:p.Gln313His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359678.10:c.939A>T"
          },
          "RefSeq": {
            "hgvs": "NM_014362.4:c.939A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352706.5:p.Gln313His"
          },
          "RefSeq": {
            "hgvs": "NP_055177.2:p.Gln313His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1234,
          "referenceAllele": "A",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "ENST00000359678.9:c.939A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352706.5:p.Gln313His",
        "hgvsWellDefined": "ENSP00000352706.5:p.Gln313His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1079,
          "referenceAllele": "A",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "ENST00000392332.7:c.939A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376144.3:p.Gln313His",
        "hgvsWellDefined": "ENSP00000376144.3:p.Gln313His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 405,
          "referenceAllele": "A",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "ENST00000409820.2:c.279A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387098.2:p.Gln93His",
        "hgvsWellDefined": "ENSP00000387098.2:p.Gln93His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 530,
          "referenceAllele": "A",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "ENST00000410045.5:c.270A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386274.1:p.Gln90His",
        "hgvsWellDefined": "ENSP00000386274.1:p.Gln90His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 192,
          "referenceAllele": "A",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "ENST00000416732.5:c.192A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399263.1:p.Gln64His",
        "hgvsWellDefined": "ENSP00000399263.1:p.Gln64His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284594"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 208,
          "referenceAllele": "A",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "ENST00000486981.1:n.208A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3082,
          "referenceAllele": "A",
          "start": 3081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "ENST00000489147.1:n.3082A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 983,
          "referenceAllele": "A",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "ENST00000622246.4:c.921A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481055.1:p.Gln307His",
        "hgvsWellDefined": "ENSP00000481055.1:p.Gln307His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1234,
          "referenceAllele": "A",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "NM_014362.3:c.939A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055177.2:p.Gln313His",
        "hgvsWellDefined": "NP_055177.2:p.Gln313His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1234,
          "referenceAllele": "A",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "NM_198047.2:c.939A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_932164.1:p.Gln313His",
        "hgvsWellDefined": "NP_932164.1:p.Gln313His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "A",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "XM_011510953.1:c.939A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509255.1:p.Gln313His",
        "hgvsWellDefined": "XP_011509255.1:p.Gln313His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "referenceAllele": "A",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "XM_011510954.1:c.441A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509256.1:p.Gln147His",
        "hgvsWellDefined": "XP_011509256.1:p.Gln147His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "A",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "XR_922903.1:n.1183A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1002,
          "referenceAllele": "A",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "XM_011510953.2:c.939A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509255.1:p.Gln313His",
        "hgvsWellDefined": "XP_011509255.1:p.Gln313His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1002,
          "referenceAllele": "A",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "XR_922903.2:n.1002A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "A",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "NM_014362.4:c.939A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055177.2:p.Gln313His",
        "hgvsWellDefined": "NP_055177.2:p.Gln313His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668308",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359678.10:c.939A>T"
          },
          "RefSeq": {
            "hgvs": "NM_014362.4:c.939A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352706.5:p.Gln313His"
          },
          "RefSeq": {
            "hgvs": "NP_055177.2:p.Gln313His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "A",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004908",
      "geneNCBI_id": 26275,
      "geneSymbol": "HIBCH",
      "hgvs": [
        "NM_198047.3:c.939A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_932164.1:p.Gln313His",
        "hgvsWellDefined": "NP_932164.1:p.Gln313His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701241"
    }
  ],
  "type": "nucleotide"
}