Canonical Allele Identifier: CA395065393
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000388958.8:c.1879C>G ENSP00000373610.3:p.Pro627Ala
ENST00000646100.2:c.1879C>G MANE Select ENSP00000496564.2:p.Pro627Ala
ENST00000647277.1:c.*693C>G ENSP00000495594.1:n.*693C>G
ENST00000286149.8:c.1921C>G ENSP00000286149.4:p.Pro641Ala
ENST00000388956.8:c.1642C>G ENSP00000373608.4:p.Pro548Ala
ENST00000388957.3:c.907C>G ENSP00000373609.3:p.Pro303Ala
ENST00000388958.7:c.1879C>G ENSP00000373610.3:p.Pro627Ala
ENST00000563871.5:n.1294C>G
NM_001161683.1:c.1642C>G NP_001155155.1:p.Pro548Ala
NM_144672.3:c.1879C>G NP_653273.3:p.Pro627Ala
NM_170664.2:c.907C>G NP_733764.1:p.Pro303Ala
XM_011545747.1:c.1879C>G XP_011544049.1:p.Pro627Ala
XM_011545748.1:c.748C>G XP_011544050.1:p.Pro250Ala
NM_144672.4:c.1879C>G MANE Select NP_653273.3:p.Pro627Ala
XM_011545748.2:c.748C>G XP_011544050.2:p.Pro250Ala
XM_017022951.1:c.145C>G XP_016878440.1:p.Pro49Ala
XR_002957775.1:n.974C>G
NM_001161683.2:c.1642C>G NP_001155155.1:p.Pro548Ala
NM_170664.3:c.907C>G NP_733764.1:p.Pro303Ala