{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA132424", "communityStandardTitle": [ "NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52491[alleleid]", "alleleId": 52491, "preferredName": "NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43321", "RCV": [ "RCV000036226", "RCV001038973", "RCV001831644" ], "variationId": 43321 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-76922354-G-A", "id": "11-76922354-G-A", "variant": "11:76922354 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.76922354G>A?assembly=hg19", "id": "chr11:g.76922354G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.77211309G>A?assembly=hg38", "id": "chr11:g.77211309G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397516328", "rs": 397516328 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-76922354-G-A?dataset=gnomad_r2_1", "id": "11-76922354-G-A", "variant": "11:76922354 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-77211309-G-A?dataset=gnomad_r3", "id": "11-77211309-G-A", "variant": "11:77211309 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-77211309-G-A?dataset=gnomad_r4", "id": "11-77211309-G-A", "variant": "11:77211309 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 77211309, "referenceAllele": "G", "start": 77211308 } ], "hgvs": [ "NC_000011.10:g.77211309G>A", "CM000673.2:g.77211309G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 76922354, "referenceAllele": "G", "start": 76922353 } ], "hgvs": [ "NC_000011.9:g.76922354G>A", "CM000673.1:g.76922354G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 76600002, "referenceAllele": "G", "start": 76600001 } ], "hgvs": [ "NC_000011.8:g.76600002G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 88045, "referenceAllele": "G", "start": 88044 } ], "hgvs": [ "NG_009086.1:g.88045G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001419" }, { "coordinates": [ { "allele": "A", "end": 88064, "referenceAllele": "G", "start": 88063 } ], "hgvs": [ "NG_009086.2:g.88064G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706092" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 6499, "referenceAllele": "G", "start": 6498 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.9:c.6209G>A" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Arg2070Gln", "hgvsWellDefined": "ENSP00000386331.3:p.Arg2070Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS754325", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.6209G>A" }, "RefSeq": { "hgvs": "NM_000260.4:c.6209G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Arg2070Gln" }, "RefSeq": { "hgvs": "NP_000251.3:p.Arg2070Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 4010, "referenceAllele": "G", "start": 4009 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000670577.1:c.4010G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773106" }, { "coordinates": [ { "allele": "A", "end": 6409, "referenceAllele": "G", "start": 6408 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409619.6:c.6062G>A" ], "proteinEffect": { "hgvs": "ENSP00000386635.2:p.Arg2021Gln", "hgvsWellDefined": "ENSP00000386635.2:p.Arg2021Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS281706" }, { "coordinates": [ { "allele": "A", "end": 6481, "referenceAllele": "G", "start": 6480 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.7:c.6209G>A" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Arg2070Gln", "hgvsWellDefined": "ENSP00000386331.3:p.Arg2070Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS281784" }, { "coordinates": [ { "allele": "A", "end": 3635, "referenceAllele": "G", "start": 3634 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000458169.2:c.3635G>A" ], "proteinEffect": { "hgvs": "ENSP00000417017.2:p.Arg1212Gln", "hgvsWellDefined": "ENSP00000417017.2:p.Arg1212Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS304279" }, { "coordinates": [ { "allele": "A", "end": 6361, "referenceAllele": "G", "start": 6360 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000458637.6:c.6095G>A" ], "proteinEffect": { "hgvs": "ENSP00000392185.2:p.Arg2032Gln", "hgvsWellDefined": "ENSP00000392185.2:p.Arg2032Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS304499" }, { "coordinates": [ { "allele": "A", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000481328.7:n.3745G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321269" }, { "coordinates": [ { "allele": "A", "end": 25, "endIntronDirection": "+", "endIntronOffset": 398, "referenceAllele": "G", "start": 25, "startIntronDirection": "+", "startIntronOffset": 397 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000526863.2:n.25+398G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352663" }, { "coordinates": [ { "allele": "A", "end": 1676, "referenceAllele": "G", "start": 1675 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000605744.1:n.1676G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS399561" }, { "@id": "http://reg.genome.network/allele/PA132425", "coordinates": [ { "allele": "A", "end": 6481, "referenceAllele": "G", "start": 6480 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.3:c.6209G>A" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Arg2070Gln", "hgvsWellDefined": "NP_000251.3:p.Arg2070Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006322" }, { "@id": "http://reg.genome.network/allele/PA2825628009", "coordinates": [ { "allele": "A", "end": 6361, "referenceAllele": "G", "start": 6360 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.1:c.6095G>A" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Arg2032Gln", "hgvsWellDefined": "NP_001120652.1:p.Arg2032Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS011524" }, { "coordinates": [ { "allele": "A", "end": 6410, "referenceAllele": "G", "start": 6409 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_005274012.2:c.6092G>A" ], "proteinEffect": { "hgvs": "XP_005274069.1:p.Arg2031Gln", "hgvsWellDefined": "XP_005274069.1:p.Arg2031Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS067798" }, { "coordinates": [ { "allele": "A", "end": 6520, "referenceAllele": "G", "start": 6519 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718558.2:c.6200G>A" ], "proteinEffect": { "hgvs": "XP_006718621.1:p.Arg2067Gln", "hgvsWellDefined": "XP_006718621.1:p.Arg2067Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS072695" }, { "coordinates": [ { "allele": "A", "end": 6415, "referenceAllele": "G", "start": 6414 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718559.2:c.6095G>A" ], "proteinEffect": { "hgvs": "XP_006718622.1:p.Arg2032Gln", "hgvsWellDefined": "XP_006718622.1:p.Arg2032Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS072696" }, { "coordinates": [ { "allele": "A", "end": 6412, "referenceAllele": "G", "start": 6411 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718560.2:c.6092G>A" ], "proteinEffect": { "hgvs": "XP_006718623.1:p.Arg2031Gln", "hgvsWellDefined": "XP_006718623.1:p.Arg2031Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS072697" }, { "coordinates": [ { "allele": "A", "end": 6413, "referenceAllele": "G", "start": 6412 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718561.2:c.6095G>A" ], "proteinEffect": { "hgvs": "XP_006718624.1:p.Arg2032Gln", "hgvsWellDefined": "XP_006718624.1:p.Arg2032Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS072698" }, { "coordinates": [ { "allele": "A", "end": 6529, "referenceAllele": "G", "start": 6528 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545044.1:c.6209G>A" ], "proteinEffect": { "hgvs": "XP_011543346.1:p.Arg2070Gln", "hgvsWellDefined": "XP_011543346.1:p.Arg2070Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS111951" }, { "coordinates": [ { "allele": "A", "end": 6523, "referenceAllele": "G", "start": 6522 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545045.1:c.6203G>A" ], "proteinEffect": { "hgvs": "XP_011543347.1:p.Arg2068Gln", "hgvsWellDefined": "XP_011543347.1:p.Arg2068Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS111952" }, { "coordinates": [ { "allele": "A", "end": 6211, "referenceAllele": "G", "start": 6210 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545046.1:c.6176G>A" ], "proteinEffect": { "hgvs": "XP_011543348.1:p.Arg2059Gln", "hgvsWellDefined": "XP_011543348.1:p.Arg2059Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS111953" }, { "coordinates": [ { "allele": "A", "end": 6433, "referenceAllele": "G", "start": 6432 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545047.1:c.6113G>A" ], "proteinEffect": { "hgvs": "XP_011543349.1:p.Arg2038Gln", "hgvsWellDefined": "XP_011543349.1:p.Arg2038Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS111954" }, { "coordinates": [ { "allele": "A", "end": 6304, "referenceAllele": "G", "start": 6303 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545048.1:c.5984G>A" ], "proteinEffect": { "hgvs": "XP_011543350.1:p.Arg1995Gln", "hgvsWellDefined": "XP_011543350.1:p.Arg1995Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS111955" }, { "coordinates": [ { "allele": "A", "end": 6292, "referenceAllele": "G", "start": 6291 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545049.1:c.5972G>A" ], "proteinEffect": { "hgvs": "XP_011543351.1:p.Arg1991Gln", "hgvsWellDefined": "XP_011543351.1:p.Arg1991Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS111956" }, { "coordinates": [ { "allele": "A", "end": 6073, "referenceAllele": "G", "start": 6072 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545050.1:c.5945G>A" ], "proteinEffect": { "hgvs": "XP_011543352.1:p.Arg1982Gln", "hgvsWellDefined": "XP_011543352.1:p.Arg1982Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS111957" }, { "coordinates": [ { "allele": "A", "end": 6529, "referenceAllele": "G", "start": 6528 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545051.1:c.6209G>A" ], "proteinEffect": { "hgvs": "XP_011543353.1:p.Arg2070Gln", "hgvsWellDefined": "XP_011543353.1:p.Arg2070Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS111958" }, { "coordinates": [ { "allele": "A", "end": 6529, "referenceAllele": "G", "start": 6528 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949938.1:n.6529G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143251" }, { "coordinates": [ { "allele": "A", "end": 6503, "referenceAllele": "G", "start": 6502 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949941.1:n.6503G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143252" }, { "coordinates": [ { "allele": "A", "end": 6553, "referenceAllele": "G", "start": 6552 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545044.2:c.6209G>A" ], "proteinEffect": { "hgvs": "XP_011543346.1:p.Arg2070Gln", "hgvsWellDefined": "XP_011543346.1:p.Arg2070Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS555897" }, { "coordinates": [ { "allele": "A", "end": 6314, "referenceAllele": "G", "start": 6313 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545046.2:c.6299G>A" ], "proteinEffect": { "hgvs": "XP_011543348.2:p.Arg2100Gln", "hgvsWellDefined": "XP_011543348.2:p.Arg2100Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS555898" }, { "coordinates": [ { "allele": "A", "end": 6162, "referenceAllele": "G", "start": 6161 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545050.2:c.5945G>A" ], "proteinEffect": { "hgvs": "XP_011543352.1:p.Arg1982Gln", "hgvsWellDefined": "XP_011543352.1:p.Arg1982Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS555899" }, { "coordinates": [ { "allele": "A", "end": 6308, "referenceAllele": "G", "start": 6307 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017778.1:c.6293G>A" ], "proteinEffect": { "hgvs": "XP_016873267.1:p.Arg2098Gln", "hgvsWellDefined": "XP_016873267.1:p.Arg2098Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS569886" }, { "coordinates": [ { "allele": "A", "end": 6305, "referenceAllele": "G", "start": 6304 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017779.1:c.6290G>A" ], "proteinEffect": { "hgvs": "XP_016873268.1:p.Arg2097Gln", "hgvsWellDefined": "XP_016873268.1:p.Arg2097Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS569887" }, { "coordinates": [ { "allele": "A", "end": 6314, "referenceAllele": "G", "start": 6313 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017780.1:c.6299G>A" ], "proteinEffect": { "hgvs": "XP_016873269.1:p.Arg2100Gln", "hgvsWellDefined": "XP_016873269.1:p.Arg2100Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS569888" }, { "coordinates": [ { "allele": "A", "end": 6218, "referenceAllele": "G", "start": 6217 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017781.1:c.6203G>A" ], "proteinEffect": { "hgvs": "XP_016873270.1:p.Arg2068Gln", "hgvsWellDefined": "XP_016873270.1:p.Arg2068Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS569889" }, { "coordinates": [ { "allele": "A", "end": 6200, "referenceAllele": "G", "start": 6199 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017782.1:c.6185G>A" ], "proteinEffect": { "hgvs": "XP_016873271.1:p.Arg2062Gln", "hgvsWellDefined": "XP_016873271.1:p.Arg2062Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS569890" }, { "coordinates": [ { "allele": "A", "end": 6197, "referenceAllele": "G", "start": 6196 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017783.1:c.6182G>A" ], "proteinEffect": { "hgvs": "XP_016873272.1:p.Arg2061Gln", "hgvsWellDefined": "XP_016873272.1:p.Arg2061Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS569891" }, { "coordinates": [ { "allele": "A", "end": 6197, "referenceAllele": "G", "start": 6196 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017784.1:c.6182G>A" ], "proteinEffect": { "hgvs": "XP_016873273.1:p.Arg2061Gln", "hgvsWellDefined": "XP_016873273.1:p.Arg2061Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS569892" }, { "coordinates": [ { "allele": "A", "end": 6077, "referenceAllele": "G", "start": 6076 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017785.1:c.6062G>A" ], "proteinEffect": { "hgvs": "XP_016873274.1:p.Arg2021Gln", "hgvsWellDefined": "XP_016873274.1:p.Arg2021Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS569893" }, { "coordinates": [ { "allele": "A", "end": 6314, "referenceAllele": "G", "start": 6313 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017786.1:c.6299G>A" ], "proteinEffect": { "hgvs": "XP_016873275.1:p.Arg2100Gln", "hgvsWellDefined": "XP_016873275.1:p.Arg2100Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS569894" }, { "coordinates": [ { "allele": "A", "end": 6200, "referenceAllele": "G", "start": 6199 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017788.1:c.6185G>A" ], "proteinEffect": { "hgvs": "XP_016873277.1:p.Arg2062Gln", "hgvsWellDefined": "XP_016873277.1:p.Arg2062Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS569896" }, { "coordinates": [ { "allele": "A", "end": 6288, "referenceAllele": "G", "start": 6287 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747885.1:n.6288G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595975" }, { "coordinates": [ { "allele": "A", "end": 6274, "referenceAllele": "G", "start": 6273 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747887.1:n.6274G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595977" }, { "@id": "http://reg.genome.network/allele/PA132425", "coordinates": [ { "allele": "A", "end": 6499, "referenceAllele": "G", "start": 6498 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.4:c.6209G>A" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Arg2070Gln", "hgvsWellDefined": "NP_000251.3:p.Arg2070Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS662373", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.6209G>A" }, "RefSeq": { "hgvs": "NM_000260.4:c.6209G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Arg2070Gln" }, "RefSeq": { "hgvs": "NP_000251.3:p.Arg2070Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2825628009", "coordinates": [ { "allele": "A", "end": 6385, "referenceAllele": "G", "start": 6384 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.2:c.6095G>A" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Arg2032Gln", "hgvsWellDefined": "NP_001120652.1:p.Arg2032Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS676839" }, { "@id": "http://reg.genome.network/allele/PA2828321648", "coordinates": [ { "allele": "A", "end": 6465, "referenceAllele": "G", "start": 6464 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001369365.1:c.6062G>A" ], "proteinEffect": { "hgvs": "NP_001356294.1:p.Arg2021Gln", "hgvsWellDefined": "NP_001356294.1:p.Arg2021Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS691590" } ], "type": "nucleotide" }