Canonical Allele Identifier: CA395062159

Gene: OTOA

Linked Data

• gnomAD v4: 16-21709936-G-T
• MyVariant Identifiers: chr16:g.21721257G>T (hg19) ; chr16:g.21709936G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21709936G>T , CM000678.2:g.21709936G>T	GRCh38
NC_000016.9:g.21721257G>T , CM000678.1:g.21721257G>T	GRCh37
NC_000016.8:g.21628758G>T	NCBI36
NG_012973.1:g.36423G>T
NG_012973.2:g.50804G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1153G>T	ENSP00000373610.3:p.Glu385Ter
ENST00000646100.2:c.1153G>T MANE Select	ENSP00000496564.2:p.Glu385Ter
ENST00000647277.1:c.1029G>T	ENSP00000495594.1:p.Met343Ile
ENST00000286149.8:c.1195G>T	ENSP00000286149.4:p.Glu399Ter
ENST00000388956.8:c.916G>T	ENSP00000373608.4:p.Glu306Ter
ENST00000388957.3:c.181G>T	ENSP00000373609.3:p.Glu61Ter
ENST00000388958.7:c.1153G>T	ENSP00000373610.3:p.Glu385Ter
ENST00000563871.5:n.373G>T
ENST00000569064.1:n.527G>T
NM_001161683.1:c.916G>T	NP_001155155.1:p.Glu306Ter
NM_144672.3:c.1153G>T	NP_653273.3:p.Glu385Ter
NM_170664.2:c.181G>T	NP_733764.1:p.Glu61Ter
XM_011545747.1:c.1153G>T	XP_011544049.1:p.Glu385Ter
XM_011545748.1:c.22G>T	XP_011544050.1:p.Glu8Ter
NM_144672.4:c.1153G>T MANE Select	NP_653273.3:p.Glu385Ter
XM_011545748.2:c.22G>T	XP_011544050.2:p.Glu8Ter
XR_002957775.1:n.248G>T
NM_001161683.2:c.916G>T	NP_001155155.1:p.Glu306Ter
NM_170664.3:c.181G>T	NP_733764.1:p.Glu61Ter