Canonical Allele Identifier: CA395062746

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721412G>C (hg19) ; chr16:g.21710091G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710091G>C , CM000678.2:g.21710091G>C	GRCh38
NC_000016.9:g.21721412G>C , CM000678.1:g.21721412G>C	GRCh37
NC_000016.8:g.21628913G>C	NCBI36
NG_012973.1:g.36578G>C
NG_012973.2:g.50959G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1308G>C	ENSP00000373610.3:p.Leu436Phe
ENST00000646100.2:c.1308G>C MANE Select	ENSP00000496564.2:p.Leu436Phe
ENST00000647277.1:c.*122G>C	ENSP00000495594.1:n.*122G>C
ENST00000286149.8:c.1350G>C	ENSP00000286149.4:p.Leu450Phe
ENST00000388956.8:c.1071G>C	ENSP00000373608.4:p.Leu357Phe
ENST00000388957.3:c.336G>C	ENSP00000373609.3:p.Leu112Phe
ENST00000388958.7:c.1308G>C	ENSP00000373610.3:p.Leu436Phe
ENST00000563871.5:n.528G>C
NM_001161683.1:c.1071G>C	NP_001155155.1:p.Leu357Phe
NM_144672.3:c.1308G>C	NP_653273.3:p.Leu436Phe
NM_170664.2:c.336G>C	NP_733764.1:p.Leu112Phe
XM_011545747.1:c.1308G>C	XP_011544049.1:p.Leu436Phe
XM_011545748.1:c.177G>C	XP_011544050.1:p.Leu59Phe
NM_144672.4:c.1308G>C MANE Select	NP_653273.3:p.Leu436Phe
XM_011545748.2:c.177G>C	XP_011544050.2:p.Leu59Phe
XR_002957775.1:n.403G>C
NM_001161683.2:c.1071G>C	NP_001155155.1:p.Leu357Phe
NM_170664.3:c.336G>C	NP_733764.1:p.Leu112Phe