Canonical Allele Identifier: CA395062266
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21709959T>A , CM000678.2:g.21709959T>A GRCh38
NC_000016.9:g.21721280T>A , CM000678.1:g.21721280T>A GRCh37
NC_000016.8:g.21628781T>A NCBI36
NG_012973.1:g.36446T>A
NG_012973.2:g.50827T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1176T>A ENSP00000373610.3:p.Asp392Glu
ENST00000646100.2:c.1176T>A MANE Select ENSP00000496564.2:p.Asp392Glu
ENST00000647277.1:c.1052T>A ENSP00000495594.1:p.Met351Lys
ENST00000286149.8:c.1218T>A ENSP00000286149.4:p.Asp406Glu
ENST00000388956.8:c.939T>A ENSP00000373608.4:p.Asp313Glu
ENST00000388957.3:c.204T>A ENSP00000373609.3:p.Asp68Glu
ENST00000388958.7:c.1176T>A ENSP00000373610.3:p.Asp392Glu
ENST00000563871.5:n.396T>A
NM_001161683.1:c.939T>A NP_001155155.1:p.Asp313Glu
NM_144672.3:c.1176T>A NP_653273.3:p.Asp392Glu
NM_170664.2:c.204T>A NP_733764.1:p.Asp68Glu
XM_011545747.1:c.1176T>A XP_011544049.1:p.Asp392Glu
XM_011545748.1:c.45T>A XP_011544050.1:p.Asp15Glu
NM_144672.4:c.1176T>A MANE Select NP_653273.3:p.Asp392Glu
XM_011545748.2:c.45T>A XP_011544050.2:p.Asp15Glu
XR_002957775.1:n.271T>A
NM_001161683.2:c.939T>A NP_001155155.1:p.Asp313Glu
NM_170664.3:c.204T>A NP_733764.1:p.Asp68Glu