Canonical Allele Identifier: CA395062614

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721354T>G (hg19) ; chr16:g.21710033T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710033T>G , CM000678.2:g.21710033T>G	GRCh38
NC_000016.9:g.21721354T>G , CM000678.1:g.21721354T>G	GRCh37
NC_000016.8:g.21628855T>G	NCBI36
NG_012973.1:g.36520T>G
NG_012973.2:g.50901T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1250T>G	ENSP00000373610.3:p.Leu417Arg
ENST00000646100.2:c.1250T>G MANE Select	ENSP00000496564.2:p.Leu417Arg
ENST00000647277.1:c.*64T>G	ENSP00000495594.1:n.*64T>G
ENST00000286149.8:c.1292T>G	ENSP00000286149.4:p.Leu431Arg
ENST00000388956.8:c.1013T>G	ENSP00000373608.4:p.Leu338Arg
ENST00000388957.3:c.278T>G	ENSP00000373609.3:p.Leu93Arg
ENST00000388958.7:c.1250T>G	ENSP00000373610.3:p.Leu417Arg
ENST00000563871.5:n.470T>G
NM_001161683.1:c.1013T>G	NP_001155155.1:p.Leu338Arg
NM_144672.3:c.1250T>G	NP_653273.3:p.Leu417Arg
NM_170664.2:c.278T>G	NP_733764.1:p.Leu93Arg
XM_011545747.1:c.1250T>G	XP_011544049.1:p.Leu417Arg
XM_011545748.1:c.119T>G	XP_011544050.1:p.Leu40Arg
NM_144672.4:c.1250T>G MANE Select	NP_653273.3:p.Leu417Arg
XM_011545748.2:c.119T>G	XP_011544050.2:p.Leu40Arg
XR_002957775.1:n.345T>G
NM_001161683.2:c.1013T>G	NP_001155155.1:p.Leu338Arg
NM_170664.3:c.278T>G	NP_733764.1:p.Leu93Arg