Canonical Allele Identifier: CA494117633
Gene: OTOA HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.21721397G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710076G>A , CM000678.2:g.21710076G>A GRCh38
NC_000016.9:g.21721397G>A , CM000678.1:g.21721397G>A GRCh37
NC_000016.8:g.21628898G>A NCBI36
NG_012973.1:g.36563G>A
NG_012973.2:g.50944G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1293G>A ENSP00000373610.3:p.Leu431=
ENST00000646100.2:c.1293G>A MANE Select ENSP00000496564.2:p.Leu431=
ENST00000647277.1:c.*107G>A ENSP00000495594.1:n.*107G>A
ENST00000286149.8:c.1335G>A ENSP00000286149.4:p.Leu445=
ENST00000388956.8:c.1056G>A ENSP00000373608.4:p.Leu352=
ENST00000388957.3:c.321G>A ENSP00000373609.3:p.Leu107=
ENST00000388958.7:c.1293G>A ENSP00000373610.3:p.Leu431=
ENST00000563871.5:n.513G>A
NM_001161683.1:c.1056G>A NP_001155155.1:p.Leu352=
NM_144672.3:c.1293G>A NP_653273.3:p.Leu431=
NM_170664.2:c.321G>A NP_733764.1:p.Leu107=
XM_011545747.1:c.1293G>A XP_011544049.1:p.Leu431=
XM_011545748.1:c.162G>A XP_011544050.1:p.Leu54=
NM_144672.4:c.1293G>A MANE Select NP_653273.3:p.Leu431=
XM_011545748.2:c.162G>A XP_011544050.2:p.Leu54=
XR_002957775.1:n.388G>A
NM_001161683.2:c.1056G>A NP_001155155.1:p.Leu352=
NM_170664.3:c.321G>A NP_733764.1:p.Leu107=