Canonical Allele Identifier: CA5905336
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 666633
ClinVar RCV Id: RCV000825080 RCV002067404 RCV003928290
dbSNP Id: rs534942001
ExAC: 11:17574684 A / G
gnomAD v2: 11-17574684-A-G
gnomAD v3: 11-17553137-A-G
gnomAD v4: 11-17553137-A-G
MyVariant Identifiers: chr11:g.17574684A>G (hg19) chr11:g.17553137A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553137A>G , CM000673.2:g.17553137A>G GRCh38
NC_000011.9:g.17574684A>G , CM000673.1:g.17574684A>G GRCh37
NC_000011.8:g.17531260A>G NCBI36
NG_033191.1:g.10765A>G
NG_033191.2:g.10765A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.347A>G ENSP00000382323.2:p.Asn116Ser
ENST00000399397.6:c.311A>G MANE Select ENSP00000382329.2:p.Asn104Ser
ENST00000399391.6:c.347A>G ENSP00000382323.2:p.Asn116Ser
ENST00000399397.5:c.311A>G ENSP00000382329.2:p.Asn104Ser
ENST00000428619.1:c.128A>G ENSP00000399057.2:p.Asn43Ser
ENST00000498332.5:n.217A>G
NM_001277269.1:c.347A>G NP_001264198.1:p.Asn116Ser
NM_001292063.1:c.311A>G NP_001278992.1:p.Asn104Ser
NM_001277269.2:c.347A>G NP_001264198.1:p.Asn116Ser
NM_001292063.2:c.311A>G MANE Select NP_001278992.1:p.Asn104Ser
Search 100 bp 5'
Search 100 bp 3'