Canonical Allele Identifier: CA494116956
Gene: OTOA HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.21716541T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21705220T>C , CM000678.2:g.21705220T>C GRCh38
NC_000016.9:g.21716541T>C , CM000678.1:g.21716541T>C GRCh37
NC_000016.8:g.21624042T>C NCBI36
NG_012973.1:g.31707T>C
NG_012973.2:g.46088T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000388958.8:c.1032T>C ENSP00000373610.3:p.Thr344=
ENST00000646100.2:c.1032T>C MANE Select ENSP00000496564.2:p.Thr344=
ENST00000647277.1:c.980+4193T>C ENSP00000495594.1:n.980+4193T>C
ENST00000286149.8:c.1074T>C ENSP00000286149.4:p.Thr358=
ENST00000388956.8:c.795T>C ENSP00000373608.4:p.Thr265=
ENST00000388957.3:c.60T>C ENSP00000373609.3:p.Thr20=
ENST00000388958.7:c.1032T>C ENSP00000373610.3:p.Thr344=
ENST00000563871.5:n.252T>C
ENST00000569064.1:n.254T>C
NM_001161683.1:c.795T>C NP_001155155.1:p.Thr265=
NM_144672.3:c.1032T>C NP_653273.3:p.Thr344=
NM_170664.2:c.60T>C NP_733764.1:p.Thr20=
XM_011545747.1:c.1032T>C XP_011544049.1:p.Thr344=
XM_011545748.1:c.-252T>C XP_011544050.1:n.-252T>C
NM_144672.4:c.1032T>C MANE Select NP_653273.3:p.Thr344=
XM_011545748.2:c.-252T>C XP_011544050.2:n.-252T>C
XR_002957775.1:n.127T>C
NM_001161683.2:c.795T>C NP_001155155.1:p.Thr265=
NM_170664.3:c.60T>C NP_733764.1:p.Thr20=