Canonical Allele Identifier: CA2212574792
Community Standard Title: NM_144672.4(OTOA):c.1879C= (p.Pro627=)
Gene: OTOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21722977C= , CM000678.2:g.21722977C= GRCh38
NC_000016.9:g.21734298C= , CM000678.1:g.21734298C= GRCh37
NC_000016.8:g.21641799C= NCBI36
NG_012973.1:g.49464C=
NG_012973.2:g.63845C=

Transcript Alleles

HGVS Amino-acid Change
NM_144672.4:c.1879C= MANE Select NP_653273.3:p.Pro627=
ENST00000646100.2:c.1879C= MANE Select ENSP00000496564.2:p.Pro627=
NM_001161683.1:c.1642C= NP_001155155.1:p.Pro548=
NM_001161683.2:c.1642C= NP_001155155.1:p.Pro548=
NM_144672.3:c.1879C= NP_653273.3:p.Pro627=
NM_170664.2:c.907C= NP_733764.1:p.Pro303=
NM_170664.3:c.907C= NP_733764.1:p.Pro303=
ENST00000286149.8:c.1921C= ENSP00000286149.4:p.Pro641=
ENST00000388956.8:c.1642C= ENSP00000373608.4:p.Pro548=
ENST00000388957.3:c.907C= ENSP00000373609.3:p.Pro303=
ENST00000388958.7:c.1879C= ENSP00000373610.3:p.Pro627=
ENST00000388958.8:c.1879C= ENSP00000373610.3:p.Pro627=
ENST00000563871.5:n.1294C=
ENST00000647277.1:c.*693C= ENSP00000495594.1:n.*693C=
XM_011545747.1:c.1879C= XP_011544049.1:p.Pro627=
XM_011545748.1:c.748C= XP_011544050.1:p.Pro250=
XM_011545748.2:c.748C= XP_011544050.2:p.Pro250=
XM_017022951.1:c.145C= XP_016878440.1:p.Pro49=
XR_002957775.1:n.974C=