{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3026873",
  "communityStandardTitle": [
    "NM_005908.4(MANBA):c.1499G>A (p.Arg500His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1505273[alleleid]",
        "alleleId": 1505273,
        "preferredName": "NM_005908.4(MANBA):c.1499G>A (p.Arg500His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1515408",
        "RCV": [
          "RCV002048507"
        ],
        "variationId": 1515408
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-103579044-C-T",
        "id": "4-103579044-C-T",
        "variant": "4:103579044 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.103579044C>T?assembly=hg19",
        "id": "chr4:g.103579044C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.102657887C>T?assembly=hg38",
        "id": "chr4:g.102657887C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147542645",
        "rs": 147542645
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-103579044-C-T?dataset=gnomad_r2_1",
        "id": "4-103579044-C-T",
        "variant": "4:103579044 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-102657887-C-T?dataset=gnomad_r3",
        "id": "4-102657887-C-T",
        "variant": "4:102657887 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-102657887-C-T?dataset=gnomad_r4",
        "id": "4-102657887-C-T",
        "variant": "4:102657887 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 102657887,
          "referenceAllele": "C",
          "start": 102657886
        }
      ],
      "hgvs": [
        "NC_000004.12:g.102657887C>T",
        "CM000666.2:g.102657887C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 103579044,
          "referenceAllele": "C",
          "start": 103579043
        }
      ],
      "hgvs": [
        "NC_000004.11:g.103579044C>T",
        "CM000666.1:g.103579044C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 103798092,
          "referenceAllele": "C",
          "start": 103798091
        }
      ],
      "hgvs": [
        "NC_000004.10:g.103798092C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 108108,
          "referenceAllele": "G",
          "start": 108107
        }
      ],
      "hgvs": [
        "NG_012804.1:g.108108G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 108108,
          "referenceAllele": "G",
          "start": 108107
        }
      ],
      "hgvs": [
        "NG_012804.2:g.108108G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673610"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1726,
          "referenceAllele": "G",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "ENST00000642252.1:c.1637G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495483.1:p.Arg546His",
        "hgvsWellDefined": "ENSP00000495483.1:p.Arg546His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1587,
          "referenceAllele": "G",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "ENST00000644159.1:c.1499G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494462.1:p.Arg500His",
        "hgvsWellDefined": "ENSP00000494462.1:p.Arg500His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1767,
          "referenceAllele": "G",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "ENST00000644545.1:c.*139G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493992.1:n.*139G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1773,
          "referenceAllele": "G",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "ENST00000645348.1:c.*521G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495363.1:n.*521G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "ENST00000645558.1:c.1167G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1795,
          "referenceAllele": "G",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "ENST00000646311.1:c.*619G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493465.1:n.*619G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1653,
          "referenceAllele": "G",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "ENST00000646727.1:c.*353G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493519.1:n.*353G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1573,
          "referenceAllele": "G",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "ENST00000647097.2:c.1499G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495247.1:p.Arg500His",
        "hgvsWellDefined": "ENSP00000495247.1:p.Arg500His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769231",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647097.2:c.1499G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005908.4:c.1499G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495247.1:p.Arg500His"
          },
          "RefSeq": {
            "hgvs": "NP_005899.3:p.Arg500His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1588,
          "referenceAllele": "G",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "ENST00000647129.1:c.1588G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496137.1:n.1588G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1599,
          "referenceAllele": "G",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "ENST00000226578.8:c.1499G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226578.4:p.Arg500His",
        "hgvsWellDefined": "ENSP00000226578.4:p.Arg500His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1367,
          "referenceAllele": "G",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "ENST00000505239.1:c.1328G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427322.1:p.Arg443His",
        "hgvsWellDefined": "ENSP00000427322.1:p.Arg443His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5734,
          "referenceAllele": "G",
          "start": 5733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "ENST00000514430.5:n.5734G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573240590",
      "coordinates": [
        {
          "allele": "A",
          "end": 1599,
          "referenceAllele": "G",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "NM_005908.3:c.1499G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005899.3:p.Arg500His",
        "hgvsWellDefined": "NP_005899.3:p.Arg500His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "XM_011531965.1:c.593G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530267.1:p.Arg198His",
        "hgvsWellDefined": "XP_011530267.1:p.Arg198His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "referenceAllele": "G",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "XM_011531966.1:c.254G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530268.1:p.Arg85His",
        "hgvsWellDefined": "XP_011530268.1:p.Arg85His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1585,
          "referenceAllele": "G",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "XM_017008203.1:c.1136G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863692.1:p.Arg379His",
        "hgvsWellDefined": "XP_016863692.1:p.Arg379His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1439,
          "referenceAllele": "G",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "XM_017008204.2:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863693.1:p.Arg284His",
        "hgvsWellDefined": "XP_016863693.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3554,
          "referenceAllele": "G",
          "start": 3553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "XM_017008205.2:c.293G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863694.1:p.Arg98His",
        "hgvsWellDefined": "XP_016863694.1:p.Arg98His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "XM_024454048.1:c.1424G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309816.1:p.Arg475His",
        "hgvsWellDefined": "XP_024309816.1:p.Arg475His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1344,
          "referenceAllele": "G",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "XM_024454049.1:c.1136G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309817.1:p.Arg379His",
        "hgvsWellDefined": "XP_024309817.1:p.Arg379His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587419"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573240590",
      "coordinates": [
        {
          "allele": "A",
          "end": 1573,
          "referenceAllele": "G",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006831",
      "geneNCBI_id": 4126,
      "geneSymbol": "MANBA",
      "hgvs": [
        "NM_005908.4:c.1499G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005899.3:p.Arg500His",
        "hgvsWellDefined": "NP_005899.3:p.Arg500His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696558",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647097.2:c.1499G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005908.4:c.1499G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495247.1:p.Arg500His"
          },
          "RefSeq": {
            "hgvs": "NP_005899.3:p.Arg500His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}