Canonical Allele Identifier: CA494116953
Gene: OTOA HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.21716538C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21705217C>G , CM000678.2:g.21705217C>G GRCh38
NC_000016.9:g.21716538C>G , CM000678.1:g.21716538C>G GRCh37
NC_000016.8:g.21624039C>G NCBI36
NG_012973.1:g.31704C>G
NG_012973.2:g.46085C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000388958.8:c.1029C>G ENSP00000373610.3:p.Ala343=
ENST00000646100.2:c.1029C>G MANE Select ENSP00000496564.2:p.Ala343=
ENST00000647277.1:c.980+4190C>G ENSP00000495594.1:n.980+4190C>G
ENST00000286149.8:c.1071C>G ENSP00000286149.4:p.Ala357=
ENST00000388956.8:c.792C>G ENSP00000373608.4:p.Ala264=
ENST00000388957.3:c.57C>G ENSP00000373609.3:p.Ala19=
ENST00000388958.7:c.1029C>G ENSP00000373610.3:p.Ala343=
ENST00000563871.5:n.249C>G
ENST00000569064.1:n.251C>G
NM_001161683.1:c.792C>G NP_001155155.1:p.Ala264=
NM_144672.3:c.1029C>G NP_653273.3:p.Ala343=
NM_170664.2:c.57C>G NP_733764.1:p.Ala19=
XM_011545747.1:c.1029C>G XP_011544049.1:p.Ala343=
XM_011545748.1:c.-255C>G XP_011544050.1:n.-255C>G
NM_144672.4:c.1029C>G MANE Select NP_653273.3:p.Ala343=
XM_011545748.2:c.-255C>G XP_011544050.2:n.-255C>G
XR_002957775.1:n.124C>G
NM_001161683.2:c.792C>G NP_001155155.1:p.Ala264=
NM_170664.3:c.57C>G NP_733764.1:p.Ala19=