{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA236032", "communityStandardTitle": [ "NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57423[alleleid]", "alleleId": 57423, "preferredName": "NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48259", "RCV": [ "RCV000041571", "RCV000171287", "RCV000656336" ], "variationId": 48259 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.26684722C>T?assembly=hg19", "id": "chr2:g.26684722C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.26461854C>T?assembly=hg38", "id": "chr2:g.26461854C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/111033349", "rs": 111033349 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-26684722-C-T?dataset=gnomad_r2_1", "id": "2-26684722-C-T", "variant": "2:26684722 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-26461854-C-T?dataset=gnomad_r3", "id": "2-26461854-C-T", "variant": "2:26461854 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-26461854-C-T?dataset=gnomad_r4", "id": "2-26461854-C-T", "variant": "2:26461854 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 26461854, "referenceAllele": "C", "start": 26461853 } ], "hgvs": [ "NC_000002.12:g.26461854C>T", "CM000664.2:g.26461854C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 26684722, "referenceAllele": "C", "start": 26684721 } ], "hgvs": [ "NC_000002.11:g.26684722C>T", "CM000664.1:g.26684722C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 26538226, "referenceAllele": "C", "start": 26538225 } ], "hgvs": [ "NC_000002.10:g.26538226C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 101845, "referenceAllele": "G", "start": 101844 } ], "hgvs": [ "NG_009937.1:g.101845G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001703" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5560, "referenceAllele": "G", "start": 5559 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000272371.7:c.5375G>A" ], "proteinEffect": { "hgvs": "ENSP00000272371.2:p.Arg1792His", "hgvsWellDefined": "ENSP00000272371.2:p.Arg1792His" }, "referenceSequence": "http://reg.genome.network/refseq/RS743242", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272371.7:c.5375G>A" }, "RefSeq": { "hgvs": "NM_194248.3:c.5375G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272371.2:p.Arg1792His" }, "RefSeq": { "hgvs": "NP_919224.1:p.Arg1792His" } } } }, { "coordinates": [ { "allele": "A", "end": 3382, "referenceAllele": "G", "start": 3381 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000339598.8:c.3074G>A" ], "proteinEffect": { "hgvs": "ENSP00000344521.3:p.Arg1025His", "hgvsWellDefined": "ENSP00000344521.3:p.Arg1025His" }, "referenceSequence": "http://reg.genome.network/refseq/RS747833", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000339598.8:c.3074G>A" }, "RefSeq": { "hgvs": "NM_194323.3:c.3074G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344521.3:p.Arg1025His" }, "RefSeq": { "hgvs": "NP_919304.1:p.Arg1025His" } } } }, { "coordinates": [ { "allele": "A", "end": 3454, "referenceAllele": "G", "start": 3453 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000402415.8:c.3134G>A" ], "proteinEffect": { "hgvs": "ENSP00000383906.4:p.Arg1045His", "hgvsWellDefined": "ENSP00000383906.4:p.Arg1045His" }, "referenceSequence": "http://reg.genome.network/refseq/RS754006" }, { "coordinates": [ { "allele": "A", "end": 5502, "referenceAllele": "G", "start": 5501 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000272371.6:c.5375G>A" ], "proteinEffect": { "hgvs": "ENSP00000272371.2:p.Arg1792His", "hgvsWellDefined": "ENSP00000272371.2:p.Arg1792His" }, "referenceSequence": "http://reg.genome.network/refseq/RS252367" }, { "coordinates": [ { "allele": "A", "end": 3300, "referenceAllele": "G", "start": 3299 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000338581.10:c.3074G>A" ], "proteinEffect": { "hgvs": "ENSP00000345137.6:p.Arg1025His", "hgvsWellDefined": "ENSP00000345137.6:p.Arg1025His" }, "referenceSequence": "http://reg.genome.network/refseq/RS260687" }, { "coordinates": [ { "allele": "A", "end": 3300, "referenceAllele": "G", "start": 3299 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000339598.7:c.3074G>A" ], "proteinEffect": { "hgvs": "ENSP00000344521.3:p.Arg1025His", "hgvsWellDefined": "ENSP00000344521.3:p.Arg1025His" }, "referenceSequence": "http://reg.genome.network/refseq/RS260908" }, { "coordinates": [ { "allele": "A", "end": 3454, "referenceAllele": "G", "start": 3453 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000402415.7:c.3305G>A" ], "proteinEffect": { "hgvs": "ENSP00000383906.3:p.Arg1102His", "hgvsWellDefined": "ENSP00000383906.3:p.Arg1102His" }, "referenceSequence": "http://reg.genome.network/refseq/RS279510" }, { "coordinates": [ { "allele": "A", "end": 5482, "referenceAllele": "G", "start": 5481 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000403946.7:c.5375G>A" ], "proteinEffect": { "hgvs": "ENSP00000385255.3:p.Arg1792His", "hgvsWellDefined": "ENSP00000385255.3:p.Arg1792His" }, "referenceSequence": "http://reg.genome.network/refseq/RS279939" }, { "@id": "http://reg.genome.network/allele/PA2826697555", "coordinates": [ { "allele": "A", "end": 5502, "referenceAllele": "G", "start": 5501 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_001287489.1:c.5375G>A" ], "proteinEffect": { "hgvs": "NP_001274418.1:p.Arg1792His", "hgvsWellDefined": "NP_001274418.1:p.Arg1792His" }, "referenceSequence": "http://reg.genome.network/refseq/RS023354" }, { "@id": "http://reg.genome.network/allele/PA2829570859", "coordinates": [ { "allele": "A", "end": 3300, "referenceAllele": "G", "start": 3299 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_004802.3:c.3074G>A" ], "proteinEffect": { "hgvs": "NP_004793.2:p.Arg1025His", "hgvsWellDefined": "NP_004793.2:p.Arg1025His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029949" }, { "@id": "http://reg.genome.network/allele/PA236033", "coordinates": [ { "allele": "A", "end": 5502, "referenceAllele": "G", "start": 5501 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194248.2:c.5375G>A" ], "proteinEffect": { "hgvs": "NP_919224.1:p.Arg1792His", "hgvsWellDefined": "NP_919224.1:p.Arg1792His" }, "referenceSequence": "http://reg.genome.network/refseq/RS044301" }, { "@id": "http://reg.genome.network/allele/PA2830424189", "coordinates": [ { "allele": "A", "end": 3454, "referenceAllele": "G", "start": 3453 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194322.2:c.3305G>A" ], "proteinEffect": { "hgvs": "NP_919303.1:p.Arg1102His", "hgvsWellDefined": "NP_919303.1:p.Arg1102His" }, "referenceSequence": "http://reg.genome.network/refseq/RS044339" }, { "@id": "http://reg.genome.network/allele/PA2830424915", "coordinates": [ { "allele": "A", "end": 3300, "referenceAllele": "G", "start": 3299 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194323.2:c.3074G>A" ], "proteinEffect": { "hgvs": "NP_919304.1:p.Arg1025His", "hgvsWellDefined": "NP_919304.1:p.Arg1025His" }, "referenceSequence": "http://reg.genome.network/refseq/RS044340" }, { "coordinates": [ { "allele": "A", "end": 5360, "referenceAllele": "G", "start": 5359 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "XM_005264644.2:c.5360G>A" ], "proteinEffect": { "hgvs": "XP_005264701.1:p.Arg1787His", "hgvsWellDefined": "XP_005264701.1:p.Arg1787His" }, "referenceSequence": "http://reg.genome.network/refseq/RS064327" }, { "coordinates": [ { "allele": "A", "end": 5420, "referenceAllele": "G", "start": 5419 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "XM_011533185.1:c.5420G>A" ], "proteinEffect": { "hgvs": "XP_011531487.1:p.Arg1807His", "hgvsWellDefined": "XP_011531487.1:p.Arg1807His" }, "referenceSequence": "http://reg.genome.network/refseq/RS100210" }, { "coordinates": [ { "allele": "A", "end": 5315, "referenceAllele": "G", "start": 5314 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "XM_017005338.1:c.5315G>A" ], "proteinEffect": { "hgvs": "XP_016860827.1:p.Arg1772His", "hgvsWellDefined": "XP_016860827.1:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS560624" }, { "@id": "http://reg.genome.network/allele/PA2826697555", "coordinates": [ { "allele": "A", "end": 5560, "referenceAllele": "G", "start": 5559 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_001287489.2:c.5375G>A" ], "proteinEffect": { "hgvs": "NP_001274418.1:p.Arg1792His", "hgvsWellDefined": "NP_001274418.1:p.Arg1792His" }, "referenceSequence": "http://reg.genome.network/refseq/RS682405" }, { "@id": "http://reg.genome.network/allele/PA2829570859", "coordinates": [ { "allele": "A", "end": 3382, "referenceAllele": "G", "start": 3381 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_004802.4:c.3074G>A" ], "proteinEffect": { "hgvs": "NP_004793.2:p.Arg1025His", "hgvsWellDefined": "NP_004793.2:p.Arg1025His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696245" }, { "@id": "http://reg.genome.network/allele/PA236033", "coordinates": [ { "allele": "A", "end": 5560, "referenceAllele": "G", "start": 5559 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194248.3:c.5375G>A" ], "proteinEffect": { "hgvs": "NP_919224.1:p.Arg1792His", "hgvsWellDefined": "NP_919224.1:p.Arg1792His" }, "referenceSequence": "http://reg.genome.network/refseq/RS701195", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272371.7:c.5375G>A" }, "RefSeq": { "hgvs": "NM_194248.3:c.5375G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272371.2:p.Arg1792His" }, "RefSeq": { "hgvs": "NP_919224.1:p.Arg1792His" } } } }, { "@id": "http://reg.genome.network/allele/PA2830424189", "coordinates": [ { "allele": "A", "end": 3536, "referenceAllele": "G", "start": 3535 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194322.3:c.3305G>A" ], "proteinEffect": { "hgvs": "NP_919303.1:p.Arg1102His", "hgvsWellDefined": "NP_919303.1:p.Arg1102His" }, "referenceSequence": "http://reg.genome.network/refseq/RS701212" }, { "@id": "http://reg.genome.network/allele/PA2830424915", "coordinates": [ { "allele": "A", "end": 3382, "referenceAllele": "G", "start": 3381 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194323.3:c.3074G>A" ], "proteinEffect": { "hgvs": "NP_919304.1:p.Arg1025His", "hgvsWellDefined": "NP_919304.1:p.Arg1025His" }, "referenceSequence": "http://reg.genome.network/refseq/RS701213", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000339598.8:c.3074G>A" }, "RefSeq": { "hgvs": "NM_194323.3:c.3074G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344521.3:p.Arg1025His" }, "RefSeq": { "hgvs": "NP_919304.1:p.Arg1025His" } } } } ], "type": "nucleotide" }