Canonical Allele Identifier: CA494117455
Gene: OTOA HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.21721217A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21709896A>T , CM000678.2:g.21709896A>T GRCh38
NC_000016.9:g.21721217A>T , CM000678.1:g.21721217A>T GRCh37
NC_000016.8:g.21628718A>T NCBI36
NG_012973.1:g.36383A>T
NG_012973.2:g.50764A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1113A>T ENSP00000373610.3:p.Ala371=
ENST00000646100.2:c.1113A>T MANE Select ENSP00000496564.2:p.Ala371=
ENST00000647277.1:c.989A>T ENSP00000495594.1:p.Gln330Leu
ENST00000286149.8:c.1155A>T ENSP00000286149.4:p.Ala385=
ENST00000388956.8:c.876A>T ENSP00000373608.4:p.Ala292=
ENST00000388957.3:c.141A>T ENSP00000373609.3:p.Ala47=
ENST00000388958.7:c.1113A>T ENSP00000373610.3:p.Ala371=
ENST00000563871.5:n.333A>T
ENST00000569064.1:n.487A>T
NM_001161683.1:c.876A>T NP_001155155.1:p.Ala292=
NM_144672.3:c.1113A>T NP_653273.3:p.Ala371=
NM_170664.2:c.141A>T NP_733764.1:p.Ala47=
XM_011545747.1:c.1113A>T XP_011544049.1:p.Ala371=
XM_011545748.1:c.-19A>T XP_011544050.1:n.-19A>T
NM_144672.4:c.1113A>T MANE Select NP_653273.3:p.Ala371=
XM_011545748.2:c.-19A>T XP_011544050.2:n.-19A>T
XR_002957775.1:n.208A>T
NM_001161683.2:c.876A>T NP_001155155.1:p.Ala292=
NM_170664.3:c.141A>T NP_733764.1:p.Ala47=