Canonical Allele Identifier: CA10586024
Gene: OTOA HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.21697790G>A
GRCh37 chr16:g.21709111G>A
gnomAD v2:
16:21709111 G / A
gnomAD v3:
16:21697790 G / A
gnomAD v4:
chr16-21697790-G-A
Joint Max Group AF 0.00000443 (AFR)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV000238791
ClinVar Variation:
252785
dbSNP:
879255431
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21697790G>A , CM000678.2:g.21697790G>A GRCh38
NC_000016.9:g.21709111G>A , CM000678.1:g.21709111G>A GRCh37
NC_000016.8:g.21616612G>A NCBI36
NG_012973.1:g.24277G>A
NG_012973.2:g.38658G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.755G>A ENSP00000373610.3:p.Trp252Ter
ENST00000646100.2:c.755G>A MANE Select ENSP00000496564.2:p.Trp252Ter
ENST00000647277.1:c.755G>A ENSP00000495594.1:p.Trp252Ter
ENST00000286149.8:c.755G>A ENSP00000286149.4:p.Trp252Ter
ENST00000388956.8:c.518G>A ENSP00000373608.4:p.Trp173Ter
ENST00000388958.7:c.755G>A ENSP00000373610.3:p.Trp252Ter
NM_001161683.1:c.518G>A NP_001155155.1:p.Trp173Ter
NM_144672.3:c.755G>A NP_653273.3:p.Trp252Ter
XM_011545747.1:c.755G>A XP_011544049.1:p.Trp252Ter
NM_144672.4:c.755G>A MANE Select NP_653273.3:p.Trp252Ter
NM_001161683.2:c.518G>A NP_001155155.1:p.Trp173Ter
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