Canonical Allele Identifier: CA395055577
Gene: OTOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21687536G>A , CM000678.2:g.21687536G>A GRCh38
NC_000016.9:g.21698857G>A , CM000678.1:g.21698857G>A GRCh37
NC_000016.8:g.21606358G>A NCBI36
NG_012973.1:g.14023G>A
NG_012973.2:g.28404G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.523G>A ENSP00000373610.3:p.Glu175Lys
ENST00000646100.2:c.523G>A MANE Select ENSP00000496564.2:p.Glu175Lys
ENST00000647277.1:c.523G>A ENSP00000495594.1:p.Glu175Lys
ENST00000286149.8:c.523G>A ENSP00000286149.4:p.Glu175Lys
ENST00000388956.8:c.286G>A ENSP00000373608.4:p.Glu96Lys
ENST00000388958.7:c.523G>A ENSP00000373610.3:p.Glu175Lys
NM_001161683.1:c.286G>A NP_001155155.1:p.Glu96Lys
NM_144672.3:c.523G>A NP_653273.3:p.Glu175Lys
XM_011545747.1:c.523G>A XP_011544049.1:p.Glu175Lys
NM_144672.4:c.523G>A MANE Select NP_653273.3:p.Glu175Lys
NM_001161683.2:c.286G>A NP_001155155.1:p.Glu96Lys