{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA341605", "communityStandardTitle": [ "NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33937[alleleid]", "alleleId": 33937, "preferredName": "NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21085", "RCV": [ "RCV000020175", "RCV000220506", "RCV000789199" ], "variationId": 21085 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.70444093G>A?assembly=hg19", "id": "chrX:g.70444093G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.71224243G>A?assembly=hg38", "id": "chrX:g.71224243G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/116840822", "rs": 116840822 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 71224243, "referenceAllele": "G", "start": 71224242 } ], "hgvs": [ "NC_000023.11:g.71224243G>A", "CM000685.2:g.71224243G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 70444093, "referenceAllele": "G", "start": 70444092 } ], "hgvs": [ "NC_000023.10:g.70444093G>A", "CM000685.1:g.70444093G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 70360818, "referenceAllele": "G", "start": 70360817 } ], "hgvs": [ "NC_000023.9:g.70360818G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 14032, "referenceAllele": "G", "start": 14031 } ], "hgvs": [ "NG_008357.1:g.14032G>A", "LRG_245:g.14032G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001054" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 664, "referenceAllele": "G", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "ENST00000361726.7:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000354900.6:p.Cys179Tyr", "hgvsWellDefined": "ENSP00000354900.6:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS749526", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361726.7:c.536G>A" }, "RefSeq": { "hgvs": "NM_000166.6:c.536G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354900.6:p.Cys179Tyr" }, "RefSeq": { "hgvs": "NP_000157.1:p.Cys179Tyr" } } } }, { "coordinates": [ { "allele": "A", "end": 668, "referenceAllele": "G", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "ENST00000374029.2:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000363141.1:p.Cys179Tyr", "hgvsWellDefined": "ENSP00000363141.1:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS751356" }, { "coordinates": [ { "allele": "A", "end": 767, "referenceAllele": "G", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "ENST00000447581.2:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000407223.2:p.Cys179Tyr", "hgvsWellDefined": "ENSP00000407223.2:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS756135" }, { "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "G", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "ENST00000645009.2:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000494142.2:p.Cys179Tyr", "hgvsWellDefined": "ENSP00000494142.2:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS768120" }, { "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "G", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "ENST00000646835.1:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000494596.1:p.Cys179Tyr", "hgvsWellDefined": "ENSP00000494596.1:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS769091" }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "G", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "ENST00000647424.1:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000495960.1:p.Cys179Tyr", "hgvsWellDefined": "ENSP00000495960.1:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS769402" }, { "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "G", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "ENST00000674549.1:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000502766.1:p.Cys179Tyr", "hgvsWellDefined": "ENSP00000502766.1:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS774501" }, { "coordinates": [ { "allele": "A", "end": 665, "referenceAllele": "G", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "ENST00000674844.1:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000502556.1:p.Cys179Tyr", "hgvsWellDefined": "ENSP00000502556.1:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS774745" }, { "coordinates": [ { "allele": "A", "end": 813, "referenceAllele": "G", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "ENST00000675209.1:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000501813.1:p.Cys179Tyr", "hgvsWellDefined": "ENSP00000501813.1:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS775062" }, { "coordinates": [ { "allele": "A", "end": 2601, "referenceAllele": "G", "start": 2600 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "ENST00000675368.1:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000501757.1:p.Cys179Tyr", "hgvsWellDefined": "ENSP00000501757.1:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS775198" }, { "coordinates": [ { "allele": "A", "end": 758, "referenceAllele": "G", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "ENST00000675609.1:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000501571.1:p.Cys179Tyr", "hgvsWellDefined": "ENSP00000501571.1:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS775402" }, { "coordinates": [ { "allele": "A", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "ENST00000361726.6:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000354900.6:p.Cys179Tyr", "hgvsWellDefined": "ENSP00000354900.6:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS265624" }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "G", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "ENST00000374022.3:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000363134.3:p.Cys179Tyr", "hgvsWellDefined": "ENSP00000363134.3:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS270026" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "ENST00000374029.1:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000363141.1:p.Cys179Tyr", "hgvsWellDefined": "ENSP00000363141.1:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS270032" }, { "@id": "http://reg.genome.network/allele/PA341607", "coordinates": [ { "allele": "A", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "NM_000166.5:c.536G>A" ], "proteinEffect": { "hgvs": "NP_000157.1:p.Cys179Tyr", "hgvsWellDefined": "NP_000157.1:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006228" }, { "@id": "http://reg.genome.network/allele/PA341608", "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "G", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "NM_001097642.2:c.536G>A", "LRG_245t1:c.536G>A" ], "proteinEffect": { "hgvs": "NP_001091111.1:p.Cys179Tyr", "hgvsWellDefined": "NP_001091111.1:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS010544" }, { "coordinates": [ { "allele": "A", "end": 735, "referenceAllele": "G", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "XM_011530907.1:c.536G>A" ], "proteinEffect": { "hgvs": "XP_011529209.1:p.Cys179Tyr", "hgvsWellDefined": "XP_011529209.1:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS097948" }, { "coordinates": [ { "allele": "A", "end": 730, "referenceAllele": "G", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "XM_011530907.2:c.536G>A" ], "proteinEffect": { "hgvs": "XP_011529209.1:p.Cys179Tyr", "hgvsWellDefined": "XP_011529209.1:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS550157" }, { "@id": "http://reg.genome.network/allele/PA341607", "coordinates": [ { "allele": "A", "end": 664, "referenceAllele": "G", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "NM_000166.6:c.536G>A" ], "proteinEffect": { "hgvs": "NP_000157.1:p.Cys179Tyr", "hgvsWellDefined": "NP_000157.1:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS674732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361726.7:c.536G>A" }, "RefSeq": { "hgvs": "NM_000166.6:c.536G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354900.6:p.Cys179Tyr" }, "RefSeq": { "hgvs": "NP_000157.1:p.Cys179Tyr" } } } }, { "@id": "http://reg.genome.network/allele/PA341608", "coordinates": [ { "allele": "A", "end": 604, "referenceAllele": "G", "start": 603 } ], "gene": "http://reg.genome.network/gene/GN004283", "geneNCBI_id": 2705, "geneSymbol": "GJB1", "hgvs": [ "NM_001097642.3:c.536G>A" ], "proteinEffect": { "hgvs": "NP_001091111.1:p.Cys179Tyr", "hgvsWellDefined": "NP_001091111.1:p.Cys179Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711896" } ], "type": "nucleotide" }