Canonical Allele Identifier: CA395062759

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721417A>C (hg19) ; chr16:g.21710096A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710096A>C , CM000678.2:g.21710096A>C	GRCh38
NC_000016.9:g.21721417A>C , CM000678.1:g.21721417A>C	GRCh37
NC_000016.8:g.21628918A>C	NCBI36
NG_012973.1:g.36583A>C
NG_012973.2:g.50964A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1313A>C	ENSP00000373610.3:p.His438Pro
ENST00000646100.2:c.1313A>C MANE Select	ENSP00000496564.2:p.His438Pro
ENST00000647277.1:c.*127A>C	ENSP00000495594.1:n.*127A>C
ENST00000286149.8:c.1355A>C	ENSP00000286149.4:p.His452Pro
ENST00000388956.8:c.1076A>C	ENSP00000373608.4:p.His359Pro
ENST00000388957.3:c.341A>C	ENSP00000373609.3:p.His114Pro
ENST00000388958.7:c.1313A>C	ENSP00000373610.3:p.His438Pro
ENST00000563871.5:n.533A>C
NM_001161683.1:c.1076A>C	NP_001155155.1:p.His359Pro
NM_144672.3:c.1313A>C	NP_653273.3:p.His438Pro
NM_170664.2:c.341A>C	NP_733764.1:p.His114Pro
XM_011545747.1:c.1313A>C	XP_011544049.1:p.His438Pro
XM_011545748.1:c.182A>C	XP_011544050.1:p.His61Pro
NM_144672.4:c.1313A>C MANE Select	NP_653273.3:p.His438Pro
XM_011545748.2:c.182A>C	XP_011544050.2:p.His61Pro
XR_002957775.1:n.408A>C
NM_001161683.2:c.1076A>C	NP_001155155.1:p.His359Pro
NM_170664.3:c.341A>C	NP_733764.1:p.His114Pro