Canonical Allele Identifier: CA395062628

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721360A>C (hg19) ; chr16:g.21710039A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710039A>C , CM000678.2:g.21710039A>C	GRCh38
NC_000016.9:g.21721360A>C , CM000678.1:g.21721360A>C	GRCh37
NC_000016.8:g.21628861A>C	NCBI36
NG_012973.1:g.36526A>C
NG_012973.2:g.50907A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1256A>C	ENSP00000373610.3:p.Gln419Pro
ENST00000646100.2:c.1256A>C MANE Select	ENSP00000496564.2:p.Gln419Pro
ENST00000647277.1:c.*70A>C	ENSP00000495594.1:n.*70A>C
ENST00000286149.8:c.1298A>C	ENSP00000286149.4:p.Gln433Pro
ENST00000388956.8:c.1019A>C	ENSP00000373608.4:p.Gln340Pro
ENST00000388957.3:c.284A>C	ENSP00000373609.3:p.Gln95Pro
ENST00000388958.7:c.1256A>C	ENSP00000373610.3:p.Gln419Pro
ENST00000563871.5:n.476A>C
NM_001161683.1:c.1019A>C	NP_001155155.1:p.Gln340Pro
NM_144672.3:c.1256A>C	NP_653273.3:p.Gln419Pro
NM_170664.2:c.284A>C	NP_733764.1:p.Gln95Pro
XM_011545747.1:c.1256A>C	XP_011544049.1:p.Gln419Pro
XM_011545748.1:c.125A>C	XP_011544050.1:p.Gln42Pro
NM_144672.4:c.1256A>C MANE Select	NP_653273.3:p.Gln419Pro
XM_011545748.2:c.125A>C	XP_011544050.2:p.Gln42Pro
XR_002957775.1:n.351A>C
NM_001161683.2:c.1019A>C	NP_001155155.1:p.Gln340Pro
NM_170664.3:c.284A>C	NP_733764.1:p.Gln95Pro