Canonical Allele Identifier: CA395062571

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721345T>C (hg19) ; chr16:g.21710024T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710024T>C , CM000678.2:g.21710024T>C	GRCh38
NC_000016.9:g.21721345T>C , CM000678.1:g.21721345T>C	GRCh37
NC_000016.8:g.21628846T>C	NCBI36
NG_012973.1:g.36511T>C
NG_012973.2:g.50892T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1241T>C	ENSP00000373610.3:p.Ile414Thr
ENST00000646100.2:c.1241T>C MANE Select	ENSP00000496564.2:p.Ile414Thr
ENST00000647277.1:c.*55T>C	ENSP00000495594.1:n.*55T>C
ENST00000286149.8:c.1283T>C	ENSP00000286149.4:p.Ile428Thr
ENST00000388956.8:c.1004T>C	ENSP00000373608.4:p.Ile335Thr
ENST00000388957.3:c.269T>C	ENSP00000373609.3:p.Ile90Thr
ENST00000388958.7:c.1241T>C	ENSP00000373610.3:p.Ile414Thr
ENST00000563871.5:n.461T>C
NM_001161683.1:c.1004T>C	NP_001155155.1:p.Ile335Thr
NM_144672.3:c.1241T>C	NP_653273.3:p.Ile414Thr
NM_170664.2:c.269T>C	NP_733764.1:p.Ile90Thr
XM_011545747.1:c.1241T>C	XP_011544049.1:p.Ile414Thr
XM_011545748.1:c.110T>C	XP_011544050.1:p.Ile37Thr
NM_144672.4:c.1241T>C MANE Select	NP_653273.3:p.Ile414Thr
XM_011545748.2:c.110T>C	XP_011544050.2:p.Ile37Thr
XR_002957775.1:n.336T>C
NM_001161683.2:c.1004T>C	NP_001155155.1:p.Ile335Thr
NM_170664.3:c.269T>C	NP_733764.1:p.Ile90Thr