{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413188076", "communityStandardTitle": [ "NM_001127898.4(CLCN5):c.1635G>C (p.Gln545His)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.49853432G>C?assembly=hg19", "id": "chrX:g.49853432G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.50088775G>C?assembly=hg38", "id": "chrX:g.50088775G>C" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 50088775, "referenceAllele": "G", "start": 50088774 } ], "hgvs": [ "NC_000023.11:g.50088775G>C", "CM000685.2:g.50088775G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 49853432, "referenceAllele": "G", "start": 49853431 } ], "hgvs": [ "NC_000023.10:g.49853432G>C", "CM000685.1:g.49853432G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 49740172, "referenceAllele": "G", "start": 49740171 } ], "hgvs": [ "NC_000023.9:g.49740172G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "C", "end": 171160, "referenceAllele": "G", "start": 171159 } ], "hgvs": [ "NG_007159.3:g.171160G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000505" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2036, "referenceAllele": "G", "start": 2035 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "ENST00000376091.8:c.1635G>C" ], "proteinEffect": { "hgvs": "ENSP00000365259.3:p.Gln545His", "hgvsWellDefined": "ENSP00000365259.3:p.Gln545His" }, "referenceSequence": "http://reg.genome.network/refseq/RS751716", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376091.8:c.1635G>C" }, "RefSeq": { "hgvs": "NM_001127898.4:c.1635G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365259.3:p.Gln545His" }, "RefSeq": { "hgvs": "NP_001121370.1:p.Gln545His" } } } }, { "coordinates": [ { "allele": "C", "end": 957, "referenceAllele": "G", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "ENST00000642383.1:c.957G>C" ], "proteinEffect": { "hgvs": "ENSP00000496353.1:p.Gln319His", "hgvsWellDefined": "ENSP00000496353.1:p.Gln319His" }, "referenceSequence": "http://reg.genome.network/refseq/RS766710" }, { "coordinates": [ { "allele": "C", "end": 1577, "referenceAllele": "G", "start": 1576 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "ENST00000642885.1:c.1425G>C" ], "proteinEffect": { "hgvs": "ENSP00000496632.1:p.Gln475His", "hgvsWellDefined": "ENSP00000496632.1:p.Gln475His" }, "referenceSequence": "http://reg.genome.network/refseq/RS766969" }, { "coordinates": [ { "allele": "C", "end": 1922, "referenceAllele": "G", "start": 1921 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "ENST00000643129.1:c.1922G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767107" }, { "coordinates": [ { "allele": "C", "end": 1979, "referenceAllele": "G", "start": 1978 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "ENST00000646398.1:c.*810G>C" ], "proteinEffect": { "hgvs": "ENSP00000495122.1:n.*810G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS768850" }, { "coordinates": [ { "allele": "C", "end": 1716, "referenceAllele": "G", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "ENST00000307367.2:c.1425G>C" ], "proteinEffect": { "hgvs": "ENSP00000304257.2:p.Gln475His", "hgvsWellDefined": "ENSP00000304257.2:p.Gln475His" }, "referenceSequence": "http://reg.genome.network/refseq/RS255880" }, { "coordinates": [ { "allele": "C", "end": 2276, "referenceAllele": "G", "start": 2275 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "ENST00000376088.7:c.1635G>C" ], "proteinEffect": { "hgvs": "ENSP00000365256.3:p.Gln545His", "hgvsWellDefined": "ENSP00000365256.3:p.Gln545His" }, "referenceSequence": "http://reg.genome.network/refseq/RS271011" }, { "coordinates": [ { "allele": "C", "end": 1967, "referenceAllele": "G", "start": 1966 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "ENST00000376091.7:c.1635G>C" ], "proteinEffect": { "hgvs": "ENSP00000365259.3:p.Gln545His", "hgvsWellDefined": "ENSP00000365259.3:p.Gln545His" }, "referenceSequence": "http://reg.genome.network/refseq/RS271014" }, { "coordinates": [ { "allele": "C", "end": 1657, "referenceAllele": "G", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "ENST00000376108.7:c.1425G>C" ], "proteinEffect": { "hgvs": "ENSP00000365276.3:p.Gln475His", "hgvsWellDefined": "ENSP00000365276.3:p.Gln475His" }, "referenceSequence": "http://reg.genome.network/refseq/RS271024" }, { "@id": "http://reg.genome.network/allele/PA2825051975", "coordinates": [ { "allele": "C", "end": 1673, "referenceAllele": "G", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "NM_000084.4:c.1425G>C" ], "proteinEffect": { "hgvs": "NP_000075.1:p.Gln475His", "hgvsWellDefined": "NP_000075.1:p.Gln475His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006148" }, { "@id": "http://reg.genome.network/allele/PA2825662496", "coordinates": [ { "allele": "C", "end": 2017, "referenceAllele": "G", "start": 2016 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "NM_001127898.3:c.1635G>C" ], "proteinEffect": { "hgvs": "NP_001121370.1:p.Gln545His", "hgvsWellDefined": "NP_001121370.1:p.Gln545His" }, "referenceSequence": "http://reg.genome.network/refseq/RS011709" }, { "@id": "http://reg.genome.network/allele/PA2573065594", "coordinates": [ { "allele": "C", "end": 2276, "referenceAllele": "G", "start": 2275 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "NM_001127899.3:c.1635G>C" ], "proteinEffect": { "hgvs": "NP_001121371.1:p.Gln545His", "hgvsWellDefined": "NP_001121371.1:p.Gln545His" }, "referenceSequence": "http://reg.genome.network/refseq/RS011710" }, { "@id": "http://reg.genome.network/allele/PA2826601597", "coordinates": [ { "allele": "C", "end": 1716, "referenceAllele": "G", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "NM_001282163.1:c.1485G>C" ], "proteinEffect": { "hgvs": "NP_001269092.1:p.Gln495His", "hgvsWellDefined": "NP_001269092.1:p.Gln495His" }, "referenceSequence": "http://reg.genome.network/refseq/RS021778" }, { "coordinates": [ { "allele": "C", "end": 2039, "referenceAllele": "G", "start": 2038 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "XM_011543888.1:c.1707G>C" ], "proteinEffect": { "hgvs": "XP_011542190.1:p.Gln569His", "hgvsWellDefined": "XP_011542190.1:p.Gln569His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110801" }, { "coordinates": [ { "allele": "C", "end": 1744, "referenceAllele": "G", "start": 1743 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "XM_011543889.1:c.1497G>C" ], "proteinEffect": { "hgvs": "XP_011542191.1:p.Gln499His", "hgvsWellDefined": "XP_011542191.1:p.Gln499His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110802" }, { "coordinates": [ { "allele": "C", "end": 1979, "referenceAllele": "G", "start": 1978 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "XM_017029257.1:c.1647G>C" ], "proteinEffect": { "hgvs": "XP_016884746.1:p.Gln549His", "hgvsWellDefined": "XP_016884746.1:p.Gln549His" }, "referenceSequence": "http://reg.genome.network/refseq/RS578833" }, { "coordinates": [ { "allele": "C", "end": 2288, "referenceAllele": "G", "start": 2287 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "XM_017029258.1:c.1647G>C" ], "proteinEffect": { "hgvs": "XP_016884747.1:p.Gln549His", "hgvsWellDefined": "XP_016884747.1:p.Gln549His" }, "referenceSequence": "http://reg.genome.network/refseq/RS578834" }, { "@id": "http://reg.genome.network/allele/PA2825662496", "coordinates": [ { "allele": "C", "end": 2036, "referenceAllele": "G", "start": 2035 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "NM_001127898.4:c.1635G>C" ], "proteinEffect": { "hgvs": "NP_001121370.1:p.Gln545His", "hgvsWellDefined": "NP_001121370.1:p.Gln545His" }, "referenceSequence": "http://reg.genome.network/refseq/RS663555", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376091.8:c.1635G>C" }, "RefSeq": { "hgvs": "NM_001127898.4:c.1635G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365259.3:p.Gln545His" }, "RefSeq": { "hgvs": "NP_001121370.1:p.Gln545His" } } } }, { "@id": "http://reg.genome.network/allele/PA2825051975", "coordinates": [ { "allele": "C", "end": 1645, "referenceAllele": "G", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "NM_000084.5:c.1425G>C" ], "proteinEffect": { "hgvs": "NP_000075.1:p.Gln475His", "hgvsWellDefined": "NP_000075.1:p.Gln475His" }, "referenceSequence": "http://reg.genome.network/refseq/RS674692" }, { "@id": "http://reg.genome.network/allele/PA2573065594", "coordinates": [ { "allele": "C", "end": 2295, "referenceAllele": "G", "start": 2294 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "NM_001127899.4:c.1635G>C" ], "proteinEffect": { "hgvs": "NP_001121371.1:p.Gln545His", "hgvsWellDefined": "NP_001121371.1:p.Gln545His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676953" }, { "@id": "http://reg.genome.network/allele/PA2826601597", "coordinates": [ { "allele": "C", "end": 1716, "referenceAllele": "G", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN002023", "geneNCBI_id": 1184, "geneSymbol": "CLCN5", "hgvs": [ "NM_001282163.2:c.1485G>C" ], "proteinEffect": { "hgvs": "NP_001269092.1:p.Gln495His", "hgvsWellDefined": "NP_001269092.1:p.Gln495His" }, "referenceSequence": "http://reg.genome.network/refseq/RS715746" } ], "type": "nucleotide" }