Canonical Allele Identifier: CA494117568

Gene: OTOA

Linked Data

• dbSNP Id: rs1355551599
• gnomAD v2: 16-21721334-G-T
• gnomAD v4: 16-21710013-G-T
• MyVariant Identifiers: chr16:g.21721334G>T (hg19) ; chr16:g.21710013G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710013G>T , CM000678.2:g.21710013G>T	GRCh38
NC_000016.9:g.21721334G>T , CM000678.1:g.21721334G>T	GRCh37
NC_000016.8:g.21628835G>T	NCBI36
NG_012973.1:g.36500G>T
NG_012973.2:g.50881G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1230G>T	ENSP00000373610.3:p.Val410=
ENST00000646100.2:c.1230G>T MANE Select	ENSP00000496564.2:p.Val410=
ENST00000647277.1:c.*44G>T	ENSP00000495594.1:n.*44G>T
ENST00000286149.8:c.1272G>T	ENSP00000286149.4:p.Val424=
ENST00000388956.8:c.993G>T	ENSP00000373608.4:p.Val331=
ENST00000388957.3:c.258G>T	ENSP00000373609.3:p.Val86=
ENST00000388958.7:c.1230G>T	ENSP00000373610.3:p.Val410=
ENST00000563871.5:n.450G>T
NM_001161683.1:c.993G>T	NP_001155155.1:p.Val331=
NM_144672.3:c.1230G>T	NP_653273.3:p.Val410=
NM_170664.2:c.258G>T	NP_733764.1:p.Val86=
XM_011545747.1:c.1230G>T	XP_011544049.1:p.Val410=
XM_011545748.1:c.99G>T	XP_011544050.1:p.Val33=
NM_144672.4:c.1230G>T MANE Select	NP_653273.3:p.Val410=
XM_011545748.2:c.99G>T	XP_011544050.2:p.Val33=
XR_002957775.1:n.325G>T
NM_001161683.2:c.993G>T	NP_001155155.1:p.Val331=
NM_170664.3:c.258G>T	NP_733764.1:p.Val86=