{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349787330",
  "communityStandardTitle": [
    "NM_002500.5(NEUROD1):c.133A>T (p.Thr45Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.182543455T>A?assembly=hg19",
        "id": "chr2:g.182543455T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.181678728T>A?assembly=hg38",
        "id": "chr2:g.181678728T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1801262",
        "rs": 1801262
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-181678728-T-A?dataset=gnomad_r4",
        "id": "2-181678728-T-A",
        "variant": "2:181678728 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 181678728,
          "referenceAllele": "T",
          "start": 181678727
        }
      ],
      "hgvs": [
        "NC_000002.12:g.181678728T>A",
        "CM000664.2:g.181678728T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 182543455,
          "referenceAllele": "T",
          "start": 182543454
        }
      ],
      "hgvs": [
        "NC_000002.11:g.182543455T>A",
        "CM000664.1:g.182543455T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 182251700,
          "referenceAllele": "T",
          "start": 182251699
        }
      ],
      "hgvs": [
        "NC_000002.10:g.182251700T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6790,
          "referenceAllele": "A",
          "start": 6789
        }
      ],
      "hgvs": [
        "NG_011820.3:g.6790A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733334"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "endIntronDirection": "+",
          "endIntronOffset": 1702,
          "referenceAllele": "A",
          "start": 398,
          "startIntronDirection": "+",
          "startIntronOffset": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007762",
      "geneNCBI_id": 4760,
      "geneSymbol": "NEUROD1",
      "hgvs": [
        "ENST00000496876.2:n.398+1702A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 91,
          "endIntronDirection": "+",
          "endIntronOffset": 1702,
          "referenceAllele": "A",
          "start": 91,
          "startIntronDirection": "+",
          "startIntronOffset": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007762",
      "geneNCBI_id": 4760,
      "geneSymbol": "NEUROD1",
      "hgvs": [
        "ENST00000683166.1:n.91+1702A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "A",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007762",
      "geneNCBI_id": 4760,
      "geneSymbol": "NEUROD1",
      "hgvs": [
        "ENST00000683430.1:c.133A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506907.1:p.Thr45Ser",
        "hgvsWellDefined": "ENSP00000506907.1:p.Thr45Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "A",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007762",
      "geneNCBI_id": 4760,
      "geneSymbol": "NEUROD1",
      "hgvs": [
        "ENST00000684079.1:c.133A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507492.1:p.Thr45Ser",
        "hgvsWellDefined": "ENSP00000507492.1:p.Thr45Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "endIntronDirection": "+",
          "endIntronOffset": 1702,
          "referenceAllele": "A",
          "start": 61,
          "startIntronDirection": "+",
          "startIntronOffset": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021699",
      "geneNCBI_id": 375298,
      "geneSymbol": "CERKL",
      "hgvs": [
        "ENST00000684145.1:c.-455+1702A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508396.1:n.-455+1702A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "referenceAllele": "A",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007762",
      "geneNCBI_id": 4760,
      "geneSymbol": "NEUROD1",
      "hgvs": [
        "ENST00000295108.4:c.133A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295108.3:p.Thr45Ser",
        "hgvsWellDefined": "ENSP00000295108.3:p.Thr45Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744257",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295108.4:c.133A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002500.5:c.133A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295108.3:p.Thr45Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002491.3:p.Thr45Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007762",
      "geneNCBI_id": 4760,
      "geneSymbol": "NEUROD1",
      "hgvs": [
        "ENST00000295108.3:c.133A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295108.3:p.Thr45Ser",
        "hgvsWellDefined": "ENSP00000295108.3:p.Thr45Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 236,
          "endIntronDirection": "+",
          "endIntronOffset": 1702,
          "referenceAllele": "A",
          "start": 236,
          "startIntronDirection": "+",
          "startIntronOffset": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021699",
      "geneNCBI_id": 375298,
      "geneSymbol": "CERKL",
      "hgvs": [
        "ENST00000479558.5:n.236+1702A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 118,
          "endIntronDirection": "+",
          "endIntronOffset": 1702,
          "referenceAllele": "A",
          "start": 118,
          "startIntronDirection": "+",
          "startIntronOffset": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007762",
      "geneNCBI_id": 4760,
      "geneSymbol": "NEUROD1",
      "hgvs": [
        "ENST00000496876.1:n.118+1702A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "endIntronDirection": "+",
          "endIntronOffset": 1702,
          "referenceAllele": "A",
          "start": 212,
          "startIntronDirection": "+",
          "startIntronOffset": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021699",
      "geneNCBI_id": 375298,
      "geneSymbol": "CERKL",
      "hgvs": [
        "ENST00000497337.1:n.212+1702A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333595"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 236,
          "endIntronDirection": "+",
          "endIntronOffset": 1702,
          "referenceAllele": "A",
          "start": 236,
          "startIntronDirection": "+",
          "startIntronOffset": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007762",
      "geneNCBI_id": 4760,
      "geneSymbol": "NEUROD1",
      "hgvs": [
        "NR_146175.1:n.236+1702A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 236,
          "endIntronDirection": "+",
          "endIntronOffset": 1702,
          "referenceAllele": "A",
          "start": 236,
          "startIntronDirection": "+",
          "startIntronOffset": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007762",
      "geneNCBI_id": 4760,
      "geneSymbol": "NEUROD1",
      "hgvs": [
        "NR_146176.1:n.236+1702A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "endIntronDirection": "+",
          "endIntronOffset": 1702,
          "referenceAllele": "A",
          "start": 88,
          "startIntronDirection": "+",
          "startIntronOffset": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007762",
      "geneNCBI_id": 4760,
      "geneSymbol": "NEUROD1",
      "hgvs": [
        "NR_146176.2:n.88+1702A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704314"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066501147",
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "referenceAllele": "A",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007762",
      "geneNCBI_id": 4760,
      "geneSymbol": "NEUROD1",
      "hgvs": [
        "NM_002500.5:c.133A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002491.3:p.Thr45Ser",
        "hgvsWellDefined": "NP_002491.3:p.Thr45Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727282",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295108.4:c.133A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002500.5:c.133A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295108.3:p.Thr45Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002491.3:p.Thr45Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "endIntronDirection": "+",
          "endIntronOffset": 1702,
          "referenceAllele": "A",
          "start": 88,
          "startIntronDirection": "+",
          "startIntronOffset": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007762",
      "geneNCBI_id": 4760,
      "geneSymbol": "NEUROD1",
      "hgvs": [
        "NR_146175.2:n.88+1702A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731215"
    }
  ],
  "type": "nucleotide"
}