Canonical Allele Identifier: CA2632220235

Gene: OTOA

Linked Data

• gnomAD v4: 16-21710147-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710147C>T , CM000678.2:g.21710147C>T	GRCh38
NC_000016.9:g.21721468C>T , CM000678.1:g.21721468C>T	GRCh37
NC_000016.8:g.21628969C>T	NCBI36
NG_012973.1:g.36634C>T
NG_012973.2:g.51015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1320+44C>T	ENSP00000373610.3:n.1320+44C>T
ENST00000646100.2:c.1320+44C>T MANE Select	ENSP00000496564.2:n.1320+44C>T
ENST00000647277.1:c.*134+44C>T	ENSP00000495594.1:n.*134+44C>T
ENST00000286149.8:c.1362+44C>T	ENSP00000286149.4:n.1362+44C>T
ENST00000388956.8:c.1083+44C>T	ENSP00000373608.4:n.1083+44C>T
ENST00000388957.3:c.348+44C>T	ENSP00000373609.3:n.348+44C>T
ENST00000388958.7:c.1320+44C>T	ENSP00000373610.3:n.1320+44C>T
ENST00000563871.5:n.540+44C>T
NM_001161683.1:c.1083+44C>T	NP_001155155.1:n.1083+44C>T
NM_144672.3:c.1320+44C>T	NP_653273.3:n.1320+44C>T
NM_170664.2:c.348+44C>T	NP_733764.1:n.348+44C>T
XM_011545747.1:c.1320+44C>T	XP_011544049.1:n.1320+44C>T
XM_011545748.1:c.189+44C>T	XP_011544050.1:n.189+44C>T
NM_144672.4:c.1320+44C>T MANE Select	NP_653273.3:n.1320+44C>T
XM_011545748.2:c.189+44C>T	XP_011544050.2:n.189+44C>T
XR_002957775.1:n.415+44C>T
NM_001161683.2:c.1083+44C>T	NP_001155155.1:n.1083+44C>T
NM_170664.3:c.348+44C>T	NP_733764.1:n.348+44C>T