Canonical Allele Identifier: CA395062680

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721383C>G (hg19) ; chr16:g.21710062C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710062C>G , CM000678.2:g.21710062C>G	GRCh38
NC_000016.9:g.21721383C>G , CM000678.1:g.21721383C>G	GRCh37
NC_000016.8:g.21628884C>G	NCBI36
NG_012973.1:g.36549C>G
NG_012973.2:g.50930C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1279C>G	ENSP00000373610.3:p.Gln427Glu
ENST00000646100.2:c.1279C>G MANE Select	ENSP00000496564.2:p.Gln427Glu
ENST00000647277.1:c.*93C>G	ENSP00000495594.1:n.*93C>G
ENST00000286149.8:c.1321C>G	ENSP00000286149.4:p.Gln441Glu
ENST00000388956.8:c.1042C>G	ENSP00000373608.4:p.Gln348Glu
ENST00000388957.3:c.307C>G	ENSP00000373609.3:p.Gln103Glu
ENST00000388958.7:c.1279C>G	ENSP00000373610.3:p.Gln427Glu
ENST00000563871.5:n.499C>G
NM_001161683.1:c.1042C>G	NP_001155155.1:p.Gln348Glu
NM_144672.3:c.1279C>G	NP_653273.3:p.Gln427Glu
NM_170664.2:c.307C>G	NP_733764.1:p.Gln103Glu
XM_011545747.1:c.1279C>G	XP_011544049.1:p.Gln427Glu
XM_011545748.1:c.148C>G	XP_011544050.1:p.Gln50Glu
NM_144672.4:c.1279C>G MANE Select	NP_653273.3:p.Gln427Glu
XM_011545748.2:c.148C>G	XP_011544050.2:p.Gln50Glu
XR_002957775.1:n.374C>G
NM_001161683.2:c.1042C>G	NP_001155155.1:p.Gln348Glu
NM_170664.3:c.307C>G	NP_733764.1:p.Gln103Glu