Canonical Allele Identifier: CA395062762

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721419G>C (hg19) ; chr16:g.21710098G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710098G>C , CM000678.2:g.21710098G>C	GRCh38
NC_000016.9:g.21721419G>C , CM000678.1:g.21721419G>C	GRCh37
NC_000016.8:g.21628920G>C	NCBI36
NG_012973.1:g.36585G>C
NG_012973.2:g.50966G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1315G>C	ENSP00000373610.3:p.Glu439Gln
ENST00000646100.2:c.1315G>C MANE Select	ENSP00000496564.2:p.Glu439Gln
ENST00000647277.1:c.*129G>C	ENSP00000495594.1:n.*129G>C
ENST00000286149.8:c.1357G>C	ENSP00000286149.4:p.Glu453Gln
ENST00000388956.8:c.1078G>C	ENSP00000373608.4:p.Glu360Gln
ENST00000388957.3:c.343G>C	ENSP00000373609.3:p.Glu115Gln
ENST00000388958.7:c.1315G>C	ENSP00000373610.3:p.Glu439Gln
ENST00000563871.5:n.535G>C
NM_001161683.1:c.1078G>C	NP_001155155.1:p.Glu360Gln
NM_144672.3:c.1315G>C	NP_653273.3:p.Glu439Gln
NM_170664.2:c.343G>C	NP_733764.1:p.Glu115Gln
XM_011545747.1:c.1315G>C	XP_011544049.1:p.Glu439Gln
XM_011545748.1:c.184G>C	XP_011544050.1:p.Glu62Gln
NM_144672.4:c.1315G>C MANE Select	NP_653273.3:p.Glu439Gln
XM_011545748.2:c.184G>C	XP_011544050.2:p.Glu62Gln
XR_002957775.1:n.410G>C
NM_001161683.2:c.1078G>C	NP_001155155.1:p.Glu360Gln
NM_170664.3:c.343G>C	NP_733764.1:p.Glu115Gln