Canonical Allele Identifier: CA395061301

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21716540C>T (hg19) ; chr16:g.21705219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21705219C>T , CM000678.2:g.21705219C>T	GRCh38
NC_000016.9:g.21716540C>T , CM000678.1:g.21716540C>T	GRCh37
NC_000016.8:g.21624041C>T	NCBI36
NG_012973.1:g.31706C>T
NG_012973.2:g.46087C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000388958.8:c.1031C>T	ENSP00000373610.3:p.Thr344Ile
ENST00000646100.2:c.1031C>T MANE Select	ENSP00000496564.2:p.Thr344Ile
ENST00000647277.1:c.980+4192C>T	ENSP00000495594.1:n.980+4192C>T
ENST00000286149.8:c.1073C>T	ENSP00000286149.4:p.Thr358Ile
ENST00000388956.8:c.794C>T	ENSP00000373608.4:p.Thr265Ile
ENST00000388957.3:c.59C>T	ENSP00000373609.3:p.Thr20Ile
ENST00000388958.7:c.1031C>T	ENSP00000373610.3:p.Thr344Ile
ENST00000563871.5:n.251C>T
ENST00000569064.1:n.253C>T
NM_001161683.1:c.794C>T	NP_001155155.1:p.Thr265Ile
NM_144672.3:c.1031C>T	NP_653273.3:p.Thr344Ile
NM_170664.2:c.59C>T	NP_733764.1:p.Thr20Ile
XM_011545747.1:c.1031C>T	XP_011544049.1:p.Thr344Ile
XM_011545748.1:c.-253C>T	XP_011544050.1:n.-253C>T
NM_144672.4:c.1031C>T MANE Select	NP_653273.3:p.Thr344Ile
XM_011545748.2:c.-253C>T	XP_011544050.2:n.-253C>T
XR_002957775.1:n.126C>T
NM_001161683.2:c.794C>T	NP_001155155.1:p.Thr265Ile
NM_170664.3:c.59C>T	NP_733764.1:p.Thr20Ile