Canonical Allele Identifier: CA395062469
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710003C>G , CM000678.2:g.21710003C>G GRCh38
NC_000016.9:g.21721324C>G , CM000678.1:g.21721324C>G GRCh37
NC_000016.8:g.21628825C>G NCBI36
NG_012973.1:g.36490C>G
NG_012973.2:g.50871C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1220C>G ENSP00000373610.3:p.Pro407Arg
ENST00000646100.2:c.1220C>G MANE Select ENSP00000496564.2:p.Pro407Arg
ENST00000647277.1:c.*34C>G ENSP00000495594.1:n.*34C>G
ENST00000286149.8:c.1262C>G ENSP00000286149.4:p.Pro421Arg
ENST00000388956.8:c.983C>G ENSP00000373608.4:p.Pro328Arg
ENST00000388957.3:c.248C>G ENSP00000373609.3:p.Pro83Arg
ENST00000388958.7:c.1220C>G ENSP00000373610.3:p.Pro407Arg
ENST00000563871.5:n.440C>G
NM_001161683.1:c.983C>G NP_001155155.1:p.Pro328Arg
NM_144672.3:c.1220C>G NP_653273.3:p.Pro407Arg
NM_170664.2:c.248C>G NP_733764.1:p.Pro83Arg
XM_011545747.1:c.1220C>G XP_011544049.1:p.Pro407Arg
XM_011545748.1:c.89C>G XP_011544050.1:p.Pro30Arg
NM_144672.4:c.1220C>G MANE Select NP_653273.3:p.Pro407Arg
XM_011545748.2:c.89C>G XP_011544050.2:p.Pro30Arg
XR_002957775.1:n.315C>G
NM_001161683.2:c.983C>G NP_001155155.1:p.Pro328Arg
NM_170664.3:c.248C>G NP_733764.1:p.Pro83Arg