{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA131130",
  "communityStandardTitle": [
    "NM_000117.3(EMD):c.495G>A (p.Thr165=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51446[alleleid]",
        "alleleId": 51446,
        "preferredName": "NM_000117.3(EMD):c.495G>A (p.Thr165=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42276",
        "RCV": [
          "RCV000035109",
          "RCV000228467",
          "RCV000248685",
          "RCV001705643",
          "RCV001826540",
          "RCV003934888"
        ],
        "variationId": 42276
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-153609287-G-A",
        "id": "X-153609287-G-A",
        "variant": "X:153609287 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153609287G>A?assembly=hg19",
        "id": "chrX:g.153609287G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154380927G>A?assembly=hg38",
        "id": "chrX:g.154380927G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151074632",
        "rs": 151074632
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153609287-G-A?dataset=gnomad_r2_1",
        "id": "X-153609287-G-A",
        "variant": "X:153609287 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154380927-G-A?dataset=gnomad_r3",
        "id": "X-154380927-G-A",
        "variant": "X:154380927 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154380927-G-A?dataset=gnomad_r4",
        "id": "X-154380927-G-A",
        "variant": "X:154380927 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 154380927,
          "referenceAllele": "G",
          "start": 154380926
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154380927G>A",
        "CM000685.2:g.154380927G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153609287,
          "referenceAllele": "G",
          "start": 153609286
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153609287G>A",
        "CM000685.1:g.153609287G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153262481,
          "referenceAllele": "G",
          "start": 153262480
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153262481G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11492,
          "referenceAllele": "G",
          "start": 11491
        }
      ],
      "hgvs": [
        "NG_008677.1:g.11492G>A",
        "LRG_745:g.11492G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001162"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 563,
          "referenceAllele": "G",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000682114.1:c.495G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507245.1:p.Thr165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000682478.1:n.685G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000683576.1:n.685G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000683627.1:c.495G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507533.1:p.Thr165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 452,
          "referenceAllele": "G",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000684082.1:c.452G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508266.1:n.452G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "referenceAllele": "G",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000684633.1:n.467G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829584"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 491,
          "referenceAllele": "G",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000684678.1:c.491G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507059.1:n.491G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000369842.9:c.495G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358857.4:p.Thr165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750485",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369842.9:c.495G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000117.3:c.495G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358857.4:p.Thr165="
          },
          "RefSeq": {
            "hgvs": "NP_000108.1:p.Thr165="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 602,
          "referenceAllele": "G",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000369835.3:c.390G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358850.3:p.Thr130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 783,
          "referenceAllele": "G",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000369842.8:c.495G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358857.4:p.Thr165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000428228.5:c.*400G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401081.1:n.*400G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000471965.1:n.284G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000485261.1:n.764G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000486738.5:n.932G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000492448.1:n.478G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329827"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825043444",
      "coordinates": [
        {
          "allele": "A",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "NM_000117.2:c.495G>A",
        "LRG_745t1:c.495G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000108.1:p.Thr165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 958,
          "referenceAllele": "G",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "XM_024452349.1:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308117.1:p.Thr167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585844"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825043444",
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "NM_000117.3:c.495G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000108.1:p.Thr165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674709",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369842.9:c.495G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000117.3:c.495G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358857.4:p.Thr165="
          },
          "RefSeq": {
            "hgvs": "NP_000108.1:p.Thr165="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}