{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127937",
  "communityStandardTitle": [
    "NM_000477.7(ALB):c.250G>A (p.Glu84Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33256[alleleid]",
        "alleleId": 33256,
        "preferredName": "NM_000477.7(ALB):c.250G>A (p.Glu84Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18217",
        "RCV": [
          "RCV000019878"
        ],
        "variationId": 18217
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.74272458G>A?assembly=hg19",
        "id": "chr4:g.74272458G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.73406741G>A?assembly=hg38",
        "id": "chr4:g.73406741G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/77050410",
        "rs": 77050410
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 73406741,
          "referenceAllele": "G",
          "start": 73406740
        }
      ],
      "hgvs": [
        "NC_000004.12:g.73406741G>A",
        "CM000666.2:g.73406741G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 74272458,
          "referenceAllele": "G",
          "start": 74272457
        }
      ],
      "hgvs": [
        "NC_000004.11:g.74272458G>A",
        "CM000666.1:g.74272458G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 74491322,
          "referenceAllele": "G",
          "start": 74491321
        }
      ],
      "hgvs": [
        "NC_000004.10:g.74491322G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7487,
          "referenceAllele": "G",
          "start": 7486
        }
      ],
      "hgvs": [
        "NG_009291.1:g.7487G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001547"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000295897.9:c.250G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295897.4:p.Glu84Lys",
        "hgvsWellDefined": "ENSP00000295897.4:p.Glu84Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744342",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295897.9:c.250G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000477.7:c.250G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295897.4:p.Glu84Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000468.1:p.Glu84Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000295897.8:c.250G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295897.4:p.Glu84Lys",
        "hgvsWellDefined": "ENSP00000295897.4:p.Glu84Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157,
          "endIntronDirection": "+",
          "endIntronOffset": 1568,
          "referenceAllele": "G",
          "start": 157,
          "startIntronDirection": "+",
          "startIntronOffset": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000401494.7:c.137+1568G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384695.3:n.137+1568G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 178,
          "endIntronDirection": "+",
          "endIntronOffset": 1568,
          "referenceAllele": "G",
          "start": 178,
          "startIntronDirection": "+",
          "startIntronOffset": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000415165.6:c.137+1568G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401820.2:n.137+1568G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000441319.5:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392541.1:p.Glu86Lys",
        "hgvsWellDefined": "ENSP00000392541.1:p.Glu86Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "endIntronDirection": "+",
          "endIntronOffset": 2335,
          "referenceAllele": "G",
          "start": 106,
          "startIntronDirection": "+",
          "startIntronOffset": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000476441.6:c.79+2335G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423727.1:n.79+2335G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000503124.5:c.12G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421027.1:p.Leu4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 274,
          "referenceAllele": "G",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000509063.5:c.250G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422784.1:p.Glu84Lys",
        "hgvsWellDefined": "ENSP00000422784.1:p.Glu84Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "referenceAllele": "G",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000510166.5:n.286G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340752"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000514786.1:n.219G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000515133.5:n.291G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000621085.4:c.250G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483421.1:p.Glu84Lys",
        "hgvsWellDefined": "ENSP00000483421.1:p.Glu84Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 323,
          "referenceAllele": "G",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000621628.4:c.250G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480485.1:p.Glu84Lys",
        "hgvsWellDefined": "ENSP00000480485.1:p.Glu84Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127938",
      "coordinates": [
        {
          "allele": "A",
          "end": 323,
          "referenceAllele": "G",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.5:c.250G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Glu84Lys",
        "hgvsWellDefined": "NP_000468.1:p.Glu84Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006531"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127938",
      "coordinates": [
        {
          "allele": "A",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.6:c.250G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Glu84Lys",
        "hgvsWellDefined": "NP_000468.1:p.Glu84Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127938",
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.7:c.250G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Glu84Lys",
        "hgvsWellDefined": "NP_000468.1:p.Glu84Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295897.9:c.250G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000477.7:c.250G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295897.4:p.Glu84Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000468.1:p.Glu84Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}