{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371331273",
  "communityStandardTitle": [
    "NM_003878.3(GGH):c.91G>C (p.Ala31Pro)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.63951237C>G?assembly=hg19",
        "id": "chr8:g.63951237C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.63038678C>G?assembly=hg38",
        "id": "chr8:g.63038678C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11545077",
        "rs": 11545077
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 63038678,
          "referenceAllele": "C",
          "start": 63038677
        }
      ],
      "hgvs": [
        "NC_000008.11:g.63038678C>G",
        "CM000670.2:g.63038678C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 63951237,
          "referenceAllele": "C",
          "start": 63951236
        }
      ],
      "hgvs": [
        "NC_000008.10:g.63951237C>G",
        "CM000670.1:g.63951237C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 64113791,
          "referenceAllele": "C",
          "start": 64113790
        }
      ],
      "hgvs": [
        "NC_000008.9:g.64113791C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5374,
          "referenceAllele": "G",
          "start": 5373
        }
      ],
      "hgvs": [
        "NG_028126.1:g.5374G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004087"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 129,
          "referenceAllele": "G",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "ENST00000260118.7:c.91G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260118.6:p.Ala31Pro",
        "hgvsWellDefined": "ENSP00000260118.6:p.Ala31Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742015",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260118.7:c.91G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003878.3:c.91G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260118.6:p.Ala31Pro"
          },
          "RefSeq": {
            "hgvs": "NP_003869.1:p.Ala31Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 124,
          "referenceAllele": "G",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "ENST00000518113.2:c.91G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504520.1:p.Ala31Pro",
        "hgvsWellDefined": "ENSP00000504520.1:p.Ala31Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758589"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 118,
          "referenceAllele": "G",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "ENST00000523788.2:n.118G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 730,
          "referenceAllele": "G",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "ENST00000677327.1:n.730G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "G",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "ENST00000677459.1:c.91G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503731.1:p.Ala31Pro",
        "hgvsWellDefined": "ENSP00000503731.1:p.Ala31Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 190,
          "referenceAllele": "G",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "ENST00000677482.1:c.91G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504590.1:p.Ala31Pro",
        "hgvsWellDefined": "ENSP00000504590.1:p.Ala31Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "ENST00000678069.1:n.125G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 730,
          "referenceAllele": "G",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "ENST00000679326.1:c.91G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504262.1:p.Ala31Pro",
        "hgvsWellDefined": "ENSP00000504262.1:p.Ala31Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778960"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "ENST00000260118.6:c.91G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260118.6:p.Ala31Pro",
        "hgvsWellDefined": "ENSP00000260118.6:p.Ala31Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 124,
          "referenceAllele": "G",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "ENST00000518966.5:n.124G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 124,
          "referenceAllele": "G",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "ENST00000520609.5:n.124G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "ENST00000523788.1:n.125G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350086"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074690485",
      "coordinates": [
        {
          "allele": "C",
          "end": 374,
          "referenceAllele": "G",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "NM_003878.2:c.91G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003869.1:p.Ala31Pro",
        "hgvsWellDefined": "NP_003869.1:p.Ala31Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "XM_011517623.1:c.91G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515925.1:p.Ala31Pro",
        "hgvsWellDefined": "XP_011515925.1:p.Ala31Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "XM_011517623.3:c.91G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515925.1:p.Ala31Pro",
        "hgvsWellDefined": "XP_011515925.1:p.Ala31Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074690485",
      "coordinates": [
        {
          "allele": "C",
          "end": 129,
          "referenceAllele": "G",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004248",
      "geneNCBI_id": 8836,
      "geneSymbol": "GGH",
      "hgvs": [
        "NM_003878.3:c.91G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003869.1:p.Ala31Pro",
        "hgvsWellDefined": "NP_003869.1:p.Ala31Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666225",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260118.7:c.91G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003878.3:c.91G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260118.6:p.Ala31Pro"
          },
          "RefSeq": {
            "hgvs": "NP_003869.1:p.Ala31Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}