Canonical Allele Identifier: CA395062435

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721317C>A (hg19) ; chr16:g.21709996C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21709996C>A , CM000678.2:g.21709996C>A	GRCh38
NC_000016.9:g.21721317C>A , CM000678.1:g.21721317C>A	GRCh37
NC_000016.8:g.21628818C>A	NCBI36
NG_012973.1:g.36483C>A
NG_012973.2:g.50864C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1213C>A	ENSP00000373610.3:p.Leu405Ile
ENST00000646100.2:c.1213C>A MANE Select	ENSP00000496564.2:p.Leu405Ile
ENST00000647277.1:c.*27C>A	ENSP00000495594.1:n.*27C>A
ENST00000286149.8:c.1255C>A	ENSP00000286149.4:p.Leu419Ile
ENST00000388956.8:c.976C>A	ENSP00000373608.4:p.Leu326Ile
ENST00000388957.3:c.241C>A	ENSP00000373609.3:p.Leu81Ile
ENST00000388958.7:c.1213C>A	ENSP00000373610.3:p.Leu405Ile
ENST00000563871.5:n.433C>A
NM_001161683.1:c.976C>A	NP_001155155.1:p.Leu326Ile
NM_144672.3:c.1213C>A	NP_653273.3:p.Leu405Ile
NM_170664.2:c.241C>A	NP_733764.1:p.Leu81Ile
XM_011545747.1:c.1213C>A	XP_011544049.1:p.Leu405Ile
XM_011545748.1:c.82C>A	XP_011544050.1:p.Leu28Ile
NM_144672.4:c.1213C>A MANE Select	NP_653273.3:p.Leu405Ile
XM_011545748.2:c.82C>A	XP_011544050.2:p.Leu28Ile
XR_002957775.1:n.308C>A
NM_001161683.2:c.976C>A	NP_001155155.1:p.Leu326Ile
NM_170664.3:c.241C>A	NP_733764.1:p.Leu81Ile