{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127896",
  "communityStandardTitle": [
    "NM_000477.7(ALB):c.1033G>A (p.Glu345Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33233[alleleid]",
        "alleleId": 33233,
        "preferredName": "NM_000477.7(ALB):c.1033G>A (p.Glu345Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18194",
        "RCV": [
          "RCV000019838"
        ],
        "variationId": 18194
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.74279326G>A?assembly=hg19",
        "id": "chr4:g.74279326G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.73413609G>A?assembly=hg38",
        "id": "chr4:g.73413609G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72552711",
        "rs": 72552711
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 73413609,
          "referenceAllele": "G",
          "start": 73413608
        }
      ],
      "hgvs": [
        "NC_000004.12:g.73413609G>A",
        "CM000666.2:g.73413609G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 74279326,
          "referenceAllele": "G",
          "start": 74279325
        }
      ],
      "hgvs": [
        "NC_000004.11:g.74279326G>A",
        "CM000666.1:g.74279326G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 74498190,
          "referenceAllele": "G",
          "start": 74498189
        }
      ],
      "hgvs": [
        "NC_000004.10:g.74498190G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14355,
          "referenceAllele": "G",
          "start": 14354
        }
      ],
      "hgvs": [
        "NG_009291.1:g.14355G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001547"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000295897.9:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295897.4:p.Glu345Lys",
        "hgvsWellDefined": "ENSP00000295897.4:p.Glu345Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744342",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295897.9:c.1033G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000477.7:c.1033G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295897.4:p.Glu345Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000468.1:p.Glu345Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1122,
          "referenceAllele": "G",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000295897.8:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295897.4:p.Glu345Lys",
        "hgvsWellDefined": "ENSP00000295897.4:p.Glu345Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 708,
          "referenceAllele": "G",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000401494.7:c.688G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384695.3:p.Glu230Lys",
        "hgvsWellDefined": "ENSP00000384695.3:p.Glu230Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 498,
          "referenceAllele": "G",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000415165.6:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401820.2:p.Glu153Lys",
        "hgvsWellDefined": "ENSP00000401820.2:p.Glu153Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000476441.6:c.*312G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423727.1:n.*312G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "referenceAllele": "G",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000484992.1:n.353G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 790,
          "referenceAllele": "G",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000503124.5:c.583G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421027.1:p.Glu195Lys",
        "hgvsWellDefined": "ENSP00000421027.1:p.Glu195Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000504043.1:n.36G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 719,
          "referenceAllele": "G",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000505649.5:n.719G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1057,
          "referenceAllele": "G",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000509063.5:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422784.1:p.Glu345Lys",
        "hgvsWellDefined": "ENSP00000422784.1:p.Glu345Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000511370.1:c.566G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 531,
          "endIntronDirection": "-",
          "endIntronOffset": 1496,
          "referenceAllele": "G",
          "start": 531,
          "startIntronDirection": "-",
          "startIntronOffset": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000621085.4:c.491-1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483421.1:n.491-1497G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 559,
          "endIntronDirection": "-",
          "endIntronOffset": 1492,
          "referenceAllele": "G",
          "start": 559,
          "startIntronDirection": "-",
          "startIntronOffset": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000621628.4:c.487-1493G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480485.1:n.487-1493G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127897",
      "coordinates": [
        {
          "allele": "A",
          "end": 1106,
          "referenceAllele": "G",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.5:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Glu345Lys",
        "hgvsWellDefined": "NP_000468.1:p.Glu345Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006531"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127897",
      "coordinates": [
        {
          "allele": "A",
          "end": 1122,
          "referenceAllele": "G",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.6:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Glu345Lys",
        "hgvsWellDefined": "NP_000468.1:p.Glu345Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127897",
      "coordinates": [
        {
          "allele": "A",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.7:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Glu345Lys",
        "hgvsWellDefined": "NP_000468.1:p.Glu345Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295897.9:c.1033G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000477.7:c.1033G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295897.4:p.Glu345Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000468.1:p.Glu345Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}