{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377370200",
  "communityStandardTitle": [
    "NM_033100.4(CDHR1):c.159C>G (p.His53Gln)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.85956268C>G?assembly=hg19",
        "id": "chr10:g.85956268C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.84196512C>G?assembly=hg38",
        "id": "chr10:g.84196512C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12781048",
        "rs": 12781048
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-85956268-C-G?dataset=gnomad_r2_1",
        "id": "10-85956268-C-G",
        "variant": "10:85956268 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-84196512-C-G?dataset=gnomad_r4",
        "id": "10-84196512-C-G",
        "variant": "10:84196512 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 84196512,
          "referenceAllele": "C",
          "start": 84196511
        }
      ],
      "hgvs": [
        "NC_000010.11:g.84196512C>G",
        "CM000672.2:g.84196512C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 85956268,
          "referenceAllele": "C",
          "start": 85956267
        }
      ],
      "hgvs": [
        "NC_000010.10:g.85956268C>G",
        "CM000672.1:g.85956268C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 85946248,
          "referenceAllele": "C",
          "start": 85946247
        }
      ],
      "hgvs": [
        "NC_000010.9:g.85946248C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6857,
          "referenceAllele": "C",
          "start": 6856
        }
      ],
      "hgvs": [
        "NG_028034.1:g.6857C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004047"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "ENST00000623527.4:c.159C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485478.1:p.His53Gln",
        "hgvsWellDefined": "ENSP00000485478.1:p.His53Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623527.4:c.159C>G"
          },
          "RefSeq": {
            "hgvs": "NM_033100.4:c.159C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485478.1:p.His53Gln"
          },
          "RefSeq": {
            "hgvs": "NP_149091.1:p.His53Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 270,
          "referenceAllele": "C",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "ENST00000332904.7:c.159C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331063.3:p.His53Gln",
        "hgvsWellDefined": "ENSP00000331063.3:p.His53Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 285,
          "referenceAllele": "C",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "ENST00000623527.3:c.159C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485478.1:p.His53Gln",
        "hgvsWellDefined": "ENSP00000485478.1:p.His53Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826102762",
      "coordinates": [
        {
          "allele": "G",
          "end": 285,
          "referenceAllele": "C",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "NM_001171971.2:c.159C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165442.1:p.His53Gln",
        "hgvsWellDefined": "NP_001165442.1:p.His53Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645476937",
      "coordinates": [
        {
          "allele": "G",
          "end": 285,
          "referenceAllele": "C",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "NM_033100.3:c.159C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_149091.1:p.His53Gln",
        "hgvsWellDefined": "NP_149091.1:p.His53Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540337.1:c.333C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538639.1:p.His111Gln",
        "hgvsWellDefined": "XP_011538639.1:p.His111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540338.1:c.333C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538640.1:p.His111Gln",
        "hgvsWellDefined": "XP_011538640.1:p.His111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "referenceAllele": "C",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540339.1:c.-221C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538641.1:n.-221C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107287"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540340.1:c.333C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538642.1:p.His111Gln",
        "hgvsWellDefined": "XP_011538642.1:p.His111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540340.3:c.333C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538642.1:p.His111Gln",
        "hgvsWellDefined": "XP_011538642.1:p.His111Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645476937",
      "coordinates": [
        {
          "allele": "G",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "NM_033100.4:c.159C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_149091.1:p.His53Gln",
        "hgvsWellDefined": "NP_149091.1:p.His53Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671496",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623527.4:c.159C>G"
          },
          "RefSeq": {
            "hgvs": "NM_033100.4:c.159C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485478.1:p.His53Gln"
          },
          "RefSeq": {
            "hgvs": "NP_149091.1:p.His53Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826102762",
      "coordinates": [
        {
          "allele": "G",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "NM_001171971.3:c.159C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165442.1:p.His53Gln",
        "hgvsWellDefined": "NP_001165442.1:p.His53Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678730"
    }
  ],
  "type": "nucleotide"
}