Canonical Allele Identifier: CA494117621

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721394C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710073C>A , CM000678.2:g.21710073C>A	GRCh38
NC_000016.9:g.21721394C>A , CM000678.1:g.21721394C>A	GRCh37
NC_000016.8:g.21628895C>A	NCBI36
NG_012973.1:g.36560C>A
NG_012973.2:g.50941C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1290C>A	ENSP00000373610.3:p.Ile430=
ENST00000646100.2:c.1290C>A MANE Select	ENSP00000496564.2:p.Ile430=
ENST00000647277.1:c.*104C>A	ENSP00000495594.1:n.*104C>A
ENST00000286149.8:c.1332C>A	ENSP00000286149.4:p.Ile444=
ENST00000388956.8:c.1053C>A	ENSP00000373608.4:p.Ile351=
ENST00000388957.3:c.318C>A	ENSP00000373609.3:p.Ile106=
ENST00000388958.7:c.1290C>A	ENSP00000373610.3:p.Ile430=
ENST00000563871.5:n.510C>A
NM_001161683.1:c.1053C>A	NP_001155155.1:p.Ile351=
NM_144672.3:c.1290C>A	NP_653273.3:p.Ile430=
NM_170664.2:c.318C>A	NP_733764.1:p.Ile106=
XM_011545747.1:c.1290C>A	XP_011544049.1:p.Ile430=
XM_011545748.1:c.159C>A	XP_011544050.1:p.Ile53=
NM_144672.4:c.1290C>A MANE Select	NP_653273.3:p.Ile430=
XM_011545748.2:c.159C>A	XP_011544050.2:p.Ile53=
XR_002957775.1:n.385C>A
NM_001161683.2:c.1053C>A	NP_001155155.1:p.Ile351=
NM_170664.3:c.318C>A	NP_733764.1:p.Ile106=