Canonical Allele Identifier: CA7952551

Gene: OTOA

Linked Data

• dbSNP Id: rs376732939
• ExAC: 16:21721223 C / G
• gnomAD v2: 16-21721223-C-G
• gnomAD v4: 16-21709902-C-G
• MyVariant Identifiers: chr16:g.21721223C>G (hg19) ; chr16:g.21709902C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21709902C>G , CM000678.2:g.21709902C>G	GRCh38
NC_000016.9:g.21721223C>G , CM000678.1:g.21721223C>G	GRCh37
NC_000016.8:g.21628724C>G	NCBI36
NG_012973.1:g.36389C>G
NG_012973.2:g.50770C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1119C>G	ENSP00000373610.3:p.Leu373=
ENST00000646100.2:c.1119C>G MANE Select	ENSP00000496564.2:p.Leu373=
ENST00000647277.1:c.995C>G	ENSP00000495594.1:p.Ser332Cys
ENST00000286149.8:c.1161C>G	ENSP00000286149.4:p.Leu387=
ENST00000388956.8:c.882C>G	ENSP00000373608.4:p.Leu294=
ENST00000388957.3:c.147C>G	ENSP00000373609.3:p.Leu49=
ENST00000388958.7:c.1119C>G	ENSP00000373610.3:p.Leu373=
ENST00000563871.5:n.339C>G
ENST00000569064.1:n.493C>G
NM_001161683.1:c.882C>G	NP_001155155.1:p.Leu294=
NM_144672.3:c.1119C>G	NP_653273.3:p.Leu373=
NM_170664.2:c.147C>G	NP_733764.1:p.Leu49=
XM_011545747.1:c.1119C>G	XP_011544049.1:p.Leu373=
XM_011545748.1:c.-13C>G	XP_011544050.1:n.-13C>G
NM_144672.4:c.1119C>G MANE Select	NP_653273.3:p.Leu373=
XM_011545748.2:c.-13C>G	XP_011544050.2:n.-13C>G
XR_002957775.1:n.214C>G
NM_001161683.2:c.882C>G	NP_001155155.1:p.Leu294=
NM_170664.3:c.147C>G	NP_733764.1:p.Leu49=