Canonical Allele Identifier: CA395062672

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721380A>T (hg19) ; chr16:g.21710059A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710059A>T , CM000678.2:g.21710059A>T	GRCh38
NC_000016.9:g.21721380A>T , CM000678.1:g.21721380A>T	GRCh37
NC_000016.8:g.21628881A>T	NCBI36
NG_012973.1:g.36546A>T
NG_012973.2:g.50927A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1276A>T	ENSP00000373610.3:p.Ser426Cys
ENST00000646100.2:c.1276A>T MANE Select	ENSP00000496564.2:p.Ser426Cys
ENST00000647277.1:c.*90A>T	ENSP00000495594.1:n.*90A>T
ENST00000286149.8:c.1318A>T	ENSP00000286149.4:p.Ser440Cys
ENST00000388956.8:c.1039A>T	ENSP00000373608.4:p.Ser347Cys
ENST00000388957.3:c.304A>T	ENSP00000373609.3:p.Ser102Cys
ENST00000388958.7:c.1276A>T	ENSP00000373610.3:p.Ser426Cys
ENST00000563871.5:n.496A>T
NM_001161683.1:c.1039A>T	NP_001155155.1:p.Ser347Cys
NM_144672.3:c.1276A>T	NP_653273.3:p.Ser426Cys
NM_170664.2:c.304A>T	NP_733764.1:p.Ser102Cys
XM_011545747.1:c.1276A>T	XP_011544049.1:p.Ser426Cys
XM_011545748.1:c.145A>T	XP_011544050.1:p.Ser49Cys
NM_144672.4:c.1276A>T MANE Select	NP_653273.3:p.Ser426Cys
XM_011545748.2:c.145A>T	XP_011544050.2:p.Ser49Cys
XR_002957775.1:n.371A>T
NM_001161683.2:c.1039A>T	NP_001155155.1:p.Ser347Cys
NM_170664.3:c.304A>T	NP_733764.1:p.Ser102Cys