Canonical Allele Identifier: CA395062322

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721293T>G (hg19) ; chr16:g.21709972T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21709972T>G , CM000678.2:g.21709972T>G	GRCh38
NC_000016.9:g.21721293T>G , CM000678.1:g.21721293T>G	GRCh37
NC_000016.8:g.21628794T>G	NCBI36
NG_012973.1:g.36459T>G
NG_012973.2:g.50840T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1189T>G	ENSP00000373610.3:p.Leu397Val
ENST00000646100.2:c.1189T>G MANE Select	ENSP00000496564.2:p.Leu397Val
ENST00000647277.1:c.*3T>G	ENSP00000495594.1:n.*3T>G
ENST00000286149.8:c.1231T>G	ENSP00000286149.4:p.Leu411Val
ENST00000388956.8:c.952T>G	ENSP00000373608.4:p.Leu318Val
ENST00000388957.3:c.217T>G	ENSP00000373609.3:p.Leu73Val
ENST00000388958.7:c.1189T>G	ENSP00000373610.3:p.Leu397Val
ENST00000563871.5:n.409T>G
NM_001161683.1:c.952T>G	NP_001155155.1:p.Leu318Val
NM_144672.3:c.1189T>G	NP_653273.3:p.Leu397Val
NM_170664.2:c.217T>G	NP_733764.1:p.Leu73Val
XM_011545747.1:c.1189T>G	XP_011544049.1:p.Leu397Val
XM_011545748.1:c.58T>G	XP_011544050.1:p.Leu20Val
NM_144672.4:c.1189T>G MANE Select	NP_653273.3:p.Leu397Val
XM_011545748.2:c.58T>G	XP_011544050.2:p.Leu20Val
XR_002957775.1:n.284T>G
NM_001161683.2:c.952T>G	NP_001155155.1:p.Leu318Val
NM_170664.3:c.217T>G	NP_733764.1:p.Leu73Val