{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127920",
  "communityStandardTitle": [
    "NM_000477.7(ALB):c.1765G>A (p.Glu589Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33245[alleleid]",
        "alleleId": 33245,
        "preferredName": "NM_000477.7(ALB):c.1765G>A (p.Glu589Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18206",
        "RCV": [
          "RCV000019859"
        ],
        "variationId": 18206
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.74285336G>A?assembly=hg19",
        "id": "chr4:g.74285336G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.73419619G>A?assembly=hg38",
        "id": "chr4:g.73419619G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/75709682",
        "rs": 75709682
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-74285336-G-A?dataset=gnomad_r2_1",
        "id": "4-74285336-G-A",
        "variant": "4:74285336 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 73419619,
          "referenceAllele": "G",
          "start": 73419618
        }
      ],
      "hgvs": [
        "NC_000004.12:g.73419619G>A",
        "CM000666.2:g.73419619G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 74285336,
          "referenceAllele": "G",
          "start": 74285335
        }
      ],
      "hgvs": [
        "NC_000004.11:g.74285336G>A",
        "CM000666.1:g.74285336G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 74504200,
          "referenceAllele": "G",
          "start": 74504199
        }
      ],
      "hgvs": [
        "NC_000004.10:g.74504200G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20365,
          "referenceAllele": "G",
          "start": 20364
        }
      ],
      "hgvs": [
        "NG_009291.1:g.20365G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001547"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1806,
          "referenceAllele": "G",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000295897.9:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295897.4:p.Glu589Lys",
        "hgvsWellDefined": "ENSP00000295897.4:p.Glu589Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744342",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295897.9:c.1765G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000477.7:c.1765G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295897.4:p.Glu589Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000468.1:p.Glu589Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1854,
          "referenceAllele": "G",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000295897.8:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295897.4:p.Glu589Lys",
        "hgvsWellDefined": "ENSP00000295897.4:p.Glu589Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1440,
          "referenceAllele": "G",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000401494.7:c.1420G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384695.3:p.Glu474Lys",
        "hgvsWellDefined": "ENSP00000384695.3:p.Glu474Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000415165.6:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401820.2:p.Glu397Lys",
        "hgvsWellDefined": "ENSP00000401820.2:p.Glu397Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1389,
          "referenceAllele": "G",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000476441.6:c.*1044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423727.1:n.*1044G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 73,
          "referenceAllele": "G",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000495173.1:n.73G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1522,
          "referenceAllele": "G",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000503124.5:c.1315G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421027.1:p.Glu439Lys",
        "hgvsWellDefined": "ENSP00000421027.1:p.Glu439Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1312,
          "referenceAllele": "G",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000505649.5:n.1312G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 164,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000508932.5:n.175+164G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1789,
          "referenceAllele": "G",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000509063.5:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422784.1:p.Glu589Lys",
        "hgvsWellDefined": "ENSP00000422784.1:p.Glu589Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1298,
          "referenceAllele": "G",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000511370.1:c.1298G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000621085.4:c.1126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483421.1:p.Glu376Lys",
        "hgvsWellDefined": "ENSP00000483421.1:p.Glu376Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1199,
          "referenceAllele": "G",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000621628.4:c.1126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480485.1:p.Glu376Lys",
        "hgvsWellDefined": "ENSP00000480485.1:p.Glu376Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127921",
      "coordinates": [
        {
          "allele": "A",
          "end": 1838,
          "referenceAllele": "G",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.5:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Glu589Lys",
        "hgvsWellDefined": "NP_000468.1:p.Glu589Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006531"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127921",
      "coordinates": [
        {
          "allele": "A",
          "end": 1854,
          "referenceAllele": "G",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.6:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Glu589Lys",
        "hgvsWellDefined": "NP_000468.1:p.Glu589Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127921",
      "coordinates": [
        {
          "allele": "A",
          "end": 1806,
          "referenceAllele": "G",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.7:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Glu589Lys",
        "hgvsWellDefined": "NP_000468.1:p.Glu589Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295897.9:c.1765G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000477.7:c.1765G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295897.4:p.Glu589Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000468.1:p.Glu589Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}