{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341253",
  "communityStandardTitle": [
    "NM_001114134.2(EPB42):c.334G>A (p.Ala112Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28272[alleleid]",
        "alleleId": 28272,
        "preferredName": "NM_000119.2(EPB42):c.424G>A (p.Ala142Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13233",
        "RCV": [
          "RCV000014138",
          "RCV003415697"
        ],
        "variationId": 13233
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-43507389-C-T",
        "id": "15-43507389-C-T",
        "variant": "15:43507389 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43507389C>T?assembly=hg19",
        "id": "chr15:g.43507389C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43215191C>T?assembly=hg38",
        "id": "chr15:g.43215191C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894487",
        "rs": 104894487
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-43507389-C-T?dataset=gnomad_r2_1",
        "id": "15-43507389-C-T",
        "variant": "15:43507389 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-43215191-C-T?dataset=gnomad_r3",
        "id": "15-43215191-C-T",
        "variant": "15:43215191 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-43215191-C-T?dataset=gnomad_r4",
        "id": "15-43215191-C-T",
        "variant": "15:43215191 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 43215191,
          "referenceAllele": "C",
          "start": 43215190
        }
      ],
      "hgvs": [
        "NC_000015.10:g.43215191C>T",
        "CM000677.2:g.43215191C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 43507389,
          "referenceAllele": "C",
          "start": 43507388
        }
      ],
      "hgvs": [
        "NC_000015.9:g.43507389C>T",
        "CM000677.1:g.43507389C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 41294681,
          "referenceAllele": "C",
          "start": 41294680
        }
      ],
      "hgvs": [
        "NC_000015.8:g.41294681C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10935,
          "referenceAllele": "G",
          "start": 10934
        }
      ],
      "hgvs": [
        "NG_011505.1:g.10935G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15666,
          "referenceAllele": "G",
          "start": 15665
        }
      ],
      "hgvs": [
        "NG_011505.2:g.15666G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616137"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "ENST00000441366.7:c.334G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396616.2:p.Ala112Thr",
        "hgvsWellDefined": "ENSP00000396616.2:p.Ala112Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755847",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441366.7:c.334G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001114134.2:c.334G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000396616.2:p.Ala112Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001107606.1:p.Ala112Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "ENST00000648595.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497777.1:p.Ala142Thr",
        "hgvsWellDefined": "ENSP00000497777.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 882,
          "referenceAllele": "G",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "ENST00000300215.7:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300215.3:p.Ala142Thr",
        "hgvsWellDefined": "ENSP00000300215.3:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "ENST00000441366.6:c.334G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396616.2:p.Ala112Thr",
        "hgvsWellDefined": "ENSP00000396616.2:p.Ala112Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 380,
          "endIntronDirection": "+",
          "endIntronOffset": 1077,
          "referenceAllele": "G",
          "start": 380,
          "startIntronDirection": "+",
          "startIntronOffset": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "ENST00000540029.5:c.196+1077G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444699.1:n.196+1077G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 193,
          "referenceAllele": "G",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "ENST00000568508.5:c.193G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457140.1:p.Ala65Thr",
        "hgvsWellDefined": "ENSP00000457140.1:p.Ala65Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "ENST00000622454.4:c.334G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481226.1:p.Ala112Thr",
        "hgvsWellDefined": "ENSP00000481226.1:p.Ala112Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341254",
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "NM_000119.2:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000110.2:p.Ala142Thr",
        "hgvsWellDefined": "NP_000110.2:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100876",
      "coordinates": [
        {
          "allele": "A",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "NM_001114134.1:c.334G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107606.1:p.Ala112Thr",
        "hgvsWellDefined": "NP_001107606.1:p.Ala112Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 471,
          "referenceAllele": "G",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "XM_005254225.1:c.334G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254282.1:p.Ala112Thr",
        "hgvsWellDefined": "XP_005254282.1:p.Ala112Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1457,
          "referenceAllele": "G",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "XM_011521349.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519651.1:p.Ala142Thr",
        "hgvsWellDefined": "XP_011519651.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1189,
          "referenceAllele": "G",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "XM_011521350.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519652.1:p.Ala142Thr",
        "hgvsWellDefined": "XP_011519652.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1051,
          "referenceAllele": "G",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "XM_011521351.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519653.1:p.Ala142Thr",
        "hgvsWellDefined": "XP_011519653.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 667,
          "referenceAllele": "G",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "XM_011521352.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519654.1:p.Ala142Thr",
        "hgvsWellDefined": "XP_011519654.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 667,
          "referenceAllele": "G",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "XM_011521353.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519655.1:p.Ala142Thr",
        "hgvsWellDefined": "XP_011519655.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9,
          "referenceAllele": "G",
          "start": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "XM_011521354.1:c.-212G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519656.1:n.-212G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341254",
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "NM_000119.3:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000110.2:p.Ala142Thr",
        "hgvsWellDefined": "NP_000110.2:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "XM_011521349.2:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519651.1:p.Ala142Thr",
        "hgvsWellDefined": "XP_011519651.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "referenceAllele": "G",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "XM_011521350.2:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519652.1:p.Ala142Thr",
        "hgvsWellDefined": "XP_011519652.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "XM_011521351.2:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519653.1:p.Ala142Thr",
        "hgvsWellDefined": "XP_011519653.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 663,
          "referenceAllele": "G",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "XM_011521352.2:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519654.1:p.Ala142Thr",
        "hgvsWellDefined": "XP_011519654.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "XM_011521353.2:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519655.1:p.Ala142Thr",
        "hgvsWellDefined": "XP_011519655.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100876",
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "NM_001114134.2:c.334G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107606.1:p.Ala112Thr",
        "hgvsWellDefined": "NP_001107606.1:p.Ala112Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712120",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441366.7:c.334G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001114134.2:c.334G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000396616.2:p.Ala112Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001107606.1:p.Ala112Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}