{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA357234399",
  "communityStandardTitle": [
    "NM_000477.7(ALB):c.9G>C (p.Trp3Cys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.74270053G>C?assembly=hg19",
        "id": "chr4:g.74270053G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.73404336G>C?assembly=hg38",
        "id": "chr4:g.73404336G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 73404336,
          "referenceAllele": "G",
          "start": 73404335
        }
      ],
      "hgvs": [
        "NC_000004.12:g.73404336G>C",
        "CM000666.2:g.73404336G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 74270053,
          "referenceAllele": "G",
          "start": 74270052
        }
      ],
      "hgvs": [
        "NC_000004.11:g.74270053G>C",
        "CM000666.1:g.74270053G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 74488917,
          "referenceAllele": "G",
          "start": 74488916
        }
      ],
      "hgvs": [
        "NC_000004.10:g.74488917G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5082,
          "referenceAllele": "G",
          "start": 5081
        }
      ],
      "hgvs": [
        "NG_009291.1:g.5082G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001547"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50,
          "referenceAllele": "G",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000295897.9:c.9G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295897.4:p.Trp3Cys",
        "hgvsWellDefined": "ENSP00000295897.4:p.Trp3Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744342",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295897.9:c.9G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000477.7:c.9G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295897.4:p.Trp3Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000468.1:p.Trp3Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 98,
          "referenceAllele": "G",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000295897.8:c.9G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295897.4:p.Trp3Cys",
        "hgvsWellDefined": "ENSP00000295897.4:p.Trp3Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 29,
          "referenceAllele": "G",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000401494.7:c.9G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384695.3:p.Trp3Cys",
        "hgvsWellDefined": "ENSP00000384695.3:p.Trp3Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279246"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50,
          "referenceAllele": "G",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000415165.6:c.9G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401820.2:p.Trp3Cys",
        "hgvsWellDefined": "ENSP00000401820.2:p.Trp3Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47,
          "endIntronDirection": "-",
          "endIntronOffset": 32,
          "referenceAllele": "G",
          "start": 47,
          "startIntronDirection": "-",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000441319.5:c.48-33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392541.1:n.48-33G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000476441.6:c.9G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423727.1:p.Trp3Cys",
        "hgvsWellDefined": "ENSP00000423727.1:p.Trp3Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000503124.5:c.-172G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421027.1:n.-172G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 33,
          "referenceAllele": "G",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000509063.5:c.9G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422784.1:p.Trp3Cys",
        "hgvsWellDefined": "ENSP00000422784.1:p.Trp3Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339915"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50,
          "referenceAllele": "G",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000510166.5:n.50G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48,
          "referenceAllele": "G",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000514786.1:n.48G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50,
          "referenceAllele": "G",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000515133.5:n.50G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50,
          "referenceAllele": "G",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000621085.4:c.9G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483421.1:p.Trp3Cys",
        "hgvsWellDefined": "ENSP00000483421.1:p.Trp3Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 82,
          "referenceAllele": "G",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000621628.4:c.9G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480485.1:p.Trp3Cys",
        "hgvsWellDefined": "ENSP00000480485.1:p.Trp3Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 82,
          "referenceAllele": "G",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.5:c.9G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Trp3Cys",
        "hgvsWellDefined": "NP_000468.1:p.Trp3Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 98,
          "referenceAllele": "G",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.6:c.9G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Trp3Cys",
        "hgvsWellDefined": "NP_000468.1:p.Trp3Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510797"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50,
          "referenceAllele": "G",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.7:c.9G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Trp3Cys",
        "hgvsWellDefined": "NP_000468.1:p.Trp3Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295897.9:c.9G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000477.7:c.9G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295897.4:p.Trp3Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000468.1:p.Trp3Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}