Canonical Allele Identifier: CA395062681

Gene: OTOA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1279C>T	ENSP00000373610.3:p.Gln427Ter
ENST00000646100.2:c.1279C>T MANE Select	ENSP00000496564.2:p.Gln427Ter
ENST00000647277.1:c.*93C>T	ENSP00000495594.1:n.*93C>T
ENST00000286149.8:c.1321C>T	ENSP00000286149.4:p.Gln441Ter
ENST00000388956.8:c.1042C>T	ENSP00000373608.4:p.Gln348Ter
ENST00000388957.3:c.307C>T	ENSP00000373609.3:p.Gln103Ter
ENST00000388958.7:c.1279C>T	ENSP00000373610.3:p.Gln427Ter
ENST00000563871.5:n.499C>T
NM_001161683.1:c.1042C>T	NP_001155155.1:p.Gln348Ter
NM_144672.3:c.1279C>T	NP_653273.3:p.Gln427Ter
NM_170664.2:c.307C>T	NP_733764.1:p.Gln103Ter
XM_011545747.1:c.1279C>T	XP_011544049.1:p.Gln427Ter
XM_011545748.1:c.148C>T	XP_011544050.1:p.Gln50Ter
NM_144672.4:c.1279C>T MANE Select	NP_653273.3:p.Gln427Ter
XM_011545748.2:c.148C>T	XP_011544050.2:p.Gln50Ter
XR_002957775.1:n.374C>T
NM_001161683.2:c.1042C>T	NP_001155155.1:p.Gln348Ter
NM_170664.3:c.307C>T	NP_733764.1:p.Gln103Ter