Canonical Allele Identifier: CA395062275
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21709960G>T , CM000678.2:g.21709960G>T GRCh38
NC_000016.9:g.21721281G>T , CM000678.1:g.21721281G>T GRCh37
NC_000016.8:g.21628782G>T NCBI36
NG_012973.1:g.36447G>T
NG_012973.2:g.50828G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1177G>T ENSP00000373610.3:p.Ala393Ser
ENST00000646100.2:c.1177G>T MANE Select ENSP00000496564.2:p.Ala393Ser
ENST00000647277.1:c.1053G>T ENSP00000495594.1:p.Met351Ile
ENST00000286149.8:c.1219G>T ENSP00000286149.4:p.Ala407Ser
ENST00000388956.8:c.940G>T ENSP00000373608.4:p.Ala314Ser
ENST00000388957.3:c.205G>T ENSP00000373609.3:p.Ala69Ser
ENST00000388958.7:c.1177G>T ENSP00000373610.3:p.Ala393Ser
ENST00000563871.5:n.397G>T
NM_001161683.1:c.940G>T NP_001155155.1:p.Ala314Ser
NM_144672.3:c.1177G>T NP_653273.3:p.Ala393Ser
NM_170664.2:c.205G>T NP_733764.1:p.Ala69Ser
XM_011545747.1:c.1177G>T XP_011544049.1:p.Ala393Ser
XM_011545748.1:c.46G>T XP_011544050.1:p.Ala16Ser
NM_144672.4:c.1177G>T MANE Select NP_653273.3:p.Ala393Ser
XM_011545748.2:c.46G>T XP_011544050.2:p.Ala16Ser
XR_002957775.1:n.272G>T
NM_001161683.2:c.940G>T NP_001155155.1:p.Ala314Ser
NM_170664.3:c.205G>T NP_733764.1:p.Ala69Ser