Canonical Allele Identifier: CA395062312

Gene: OTOA

Linked Data

• gnomAD v4: 16-21709969-G-T
• MyVariant Identifiers: chr16:g.21721290G>T (hg19) ; chr16:g.21709969G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21709969G>T , CM000678.2:g.21709969G>T	GRCh38
NC_000016.9:g.21721290G>T , CM000678.1:g.21721290G>T	GRCh37
NC_000016.8:g.21628791G>T	NCBI36
NG_012973.1:g.36456G>T
NG_012973.2:g.50837G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1186G>T	ENSP00000373610.3:p.Gly396Cys
ENST00000646100.2:c.1186G>T MANE Select	ENSP00000496564.2:p.Gly396Cys
ENST00000647277.1:c.1062G>T	ENSP00000495594.1:p.Ter354Tyr
ENST00000286149.8:c.1228G>T	ENSP00000286149.4:p.Gly410Cys
ENST00000388956.8:c.949G>T	ENSP00000373608.4:p.Gly317Cys
ENST00000388957.3:c.214G>T	ENSP00000373609.3:p.Gly72Cys
ENST00000388958.7:c.1186G>T	ENSP00000373610.3:p.Gly396Cys
ENST00000563871.5:n.406G>T
NM_001161683.1:c.949G>T	NP_001155155.1:p.Gly317Cys
NM_144672.3:c.1186G>T	NP_653273.3:p.Gly396Cys
NM_170664.2:c.214G>T	NP_733764.1:p.Gly72Cys
XM_011545747.1:c.1186G>T	XP_011544049.1:p.Gly396Cys
XM_011545748.1:c.55G>T	XP_011544050.1:p.Gly19Cys
NM_144672.4:c.1186G>T MANE Select	NP_653273.3:p.Gly396Cys
XM_011545748.2:c.55G>T	XP_011544050.2:p.Gly19Cys
XR_002957775.1:n.281G>T
NM_001161683.2:c.949G>T	NP_001155155.1:p.Gly317Cys
NM_170664.3:c.214G>T	NP_733764.1:p.Gly72Cys