Canonical Allele Identifier: CA395061903

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721209C>A (hg19) ; chr16:g.21709888C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21709888C>A , CM000678.2:g.21709888C>A	GRCh38
NC_000016.9:g.21721209C>A , CM000678.1:g.21721209C>A	GRCh37
NC_000016.8:g.21628710C>A	NCBI36
NG_012973.1:g.36375C>A
NG_012973.2:g.50756C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000388958.8:c.1105C>A	ENSP00000373610.3:p.Leu369Ile
ENST00000646100.2:c.1105C>A MANE Select	ENSP00000496564.2:p.Leu369Ile
ENST00000647277.1:c.981C>A	ENSP00000495594.1:p.Ser327Arg
ENST00000286149.8:c.1147C>A	ENSP00000286149.4:p.Leu383Ile
ENST00000388956.8:c.868C>A	ENSP00000373608.4:p.Leu290Ile
ENST00000388957.3:c.133C>A	ENSP00000373609.3:p.Leu45Ile
ENST00000388958.7:c.1105C>A	ENSP00000373610.3:p.Leu369Ile
ENST00000563871.5:n.325C>A
ENST00000569064.1:n.479C>A
NM_001161683.1:c.868C>A	NP_001155155.1:p.Leu290Ile
NM_144672.3:c.1105C>A	NP_653273.3:p.Leu369Ile
NM_170664.2:c.133C>A	NP_733764.1:p.Leu45Ile
XM_011545747.1:c.1105C>A	XP_011544049.1:p.Leu369Ile
XM_011545748.1:c.-27C>A	XP_011544050.1:n.-27C>A
NM_144672.4:c.1105C>A MANE Select	NP_653273.3:p.Leu369Ile
XM_011545748.2:c.-27C>A	XP_011544050.2:n.-27C>A
XR_002957775.1:n.200C>A
NM_001161683.2:c.868C>A	NP_001155155.1:p.Leu290Ile
NM_170664.3:c.133C>A	NP_733764.1:p.Leu45Ile