Canonical Allele Identifier: CA395062702

Gene: OTOA

Linked Data

• gnomAD v4: 16-21710072-T-A
• MyVariant Identifiers: chr16:g.21721393T>A (hg19) ; chr16:g.21710072T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710072T>A , CM000678.2:g.21710072T>A	GRCh38
NC_000016.9:g.21721393T>A , CM000678.1:g.21721393T>A	GRCh37
NC_000016.8:g.21628894T>A	NCBI36
NG_012973.1:g.36559T>A
NG_012973.2:g.50940T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1289T>A	ENSP00000373610.3:p.Ile430Asn
ENST00000646100.2:c.1289T>A MANE Select	ENSP00000496564.2:p.Ile430Asn
ENST00000647277.1:c.*103T>A	ENSP00000495594.1:n.*103T>A
ENST00000286149.8:c.1331T>A	ENSP00000286149.4:p.Ile444Asn
ENST00000388956.8:c.1052T>A	ENSP00000373608.4:p.Ile351Asn
ENST00000388957.3:c.317T>A	ENSP00000373609.3:p.Ile106Asn
ENST00000388958.7:c.1289T>A	ENSP00000373610.3:p.Ile430Asn
ENST00000563871.5:n.509T>A
NM_001161683.1:c.1052T>A	NP_001155155.1:p.Ile351Asn
NM_144672.3:c.1289T>A	NP_653273.3:p.Ile430Asn
NM_170664.2:c.317T>A	NP_733764.1:p.Ile106Asn
XM_011545747.1:c.1289T>A	XP_011544049.1:p.Ile430Asn
XM_011545748.1:c.158T>A	XP_011544050.1:p.Ile53Asn
NM_144672.4:c.1289T>A MANE Select	NP_653273.3:p.Ile430Asn
XM_011545748.2:c.158T>A	XP_011544050.2:p.Ile53Asn
XR_002957775.1:n.384T>A
NM_001161683.2:c.1052T>A	NP_001155155.1:p.Ile351Asn
NM_170664.3:c.317T>A	NP_733764.1:p.Ile106Asn