Canonical Allele Identifier: CA494111414
Gene: OTOA HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.21739693C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21728372C>T , CM000678.2:g.21728372C>T GRCh38
NC_000016.9:g.21739693C>T , CM000678.1:g.21739693C>T GRCh37
NC_000016.8:g.21647194C>T NCBI36
NG_012973.1:g.54859C>T
NG_012973.2:g.69240C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000388958.8:c.2148C>T ENSP00000373610.3:p.Cys716=
ENST00000646100.2:c.2148C>T MANE Select ENSP00000496564.2:p.Cys716=
ENST00000647277.1:c.*962C>T ENSP00000495594.1:n.*962C>T
ENST00000286149.8:c.2190C>T ENSP00000286149.4:p.Cys730=
ENST00000388956.8:c.1911C>T ENSP00000373608.4:p.Cys637=
ENST00000388957.3:c.1176C>T ENSP00000373609.3:p.Cys392=
ENST00000388958.7:c.2148C>T ENSP00000373610.3:p.Cys716=
ENST00000563871.5:n.1611C>T
NM_001161683.1:c.1911C>T NP_001155155.1:p.Cys637=
NM_144672.3:c.2148C>T NP_653273.3:p.Cys716=
NM_170664.2:c.1176C>T NP_733764.1:p.Cys392=
XM_011545747.1:c.2148C>T XP_011544049.1:p.Cys716=
XM_011545748.1:c.1017C>T XP_011544050.1:p.Cys339=
NM_144672.4:c.2148C>T MANE Select NP_653273.3:p.Cys716=
XM_011545748.2:c.1017C>T XP_011544050.2:p.Cys339=
XM_017022951.1:c.414C>T XP_016878440.1:p.Cys138=
XR_002957775.1:n.1243C>T
NM_001161683.2:c.1911C>T NP_001155155.1:p.Cys637=
NM_170664.3:c.1176C>T NP_733764.1:p.Cys392=