Canonical Allele Identifier: CA7952576

Gene: OTOA

Linked Data

• dbSNP Id: rs753820534
• ExAC: 16:21721359 C / T
• gnomAD v3: 16-21710038-C-T
• gnomAD v4: 16-21710038-C-T
• MyVariant Identifiers: chr16:g.21721359C>T (hg19) ; chr16:g.21710038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710038C>T , CM000678.2:g.21710038C>T	GRCh38
NC_000016.9:g.21721359C>T , CM000678.1:g.21721359C>T	GRCh37
NC_000016.8:g.21628860C>T	NCBI36
NG_012973.1:g.36525C>T
NG_012973.2:g.50906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1255C>T	ENSP00000373610.3:p.Gln419Ter
ENST00000646100.2:c.1255C>T MANE Select	ENSP00000496564.2:p.Gln419Ter
ENST00000647277.1:c.*69C>T	ENSP00000495594.1:n.*69C>T
ENST00000286149.8:c.1297C>T	ENSP00000286149.4:p.Gln433Ter
ENST00000388956.8:c.1018C>T	ENSP00000373608.4:p.Gln340Ter
ENST00000388957.3:c.283C>T	ENSP00000373609.3:p.Gln95Ter
ENST00000388958.7:c.1255C>T	ENSP00000373610.3:p.Gln419Ter
ENST00000563871.5:n.475C>T
NM_001161683.1:c.1018C>T	NP_001155155.1:p.Gln340Ter
NM_144672.3:c.1255C>T	NP_653273.3:p.Gln419Ter
NM_170664.2:c.283C>T	NP_733764.1:p.Gln95Ter
XM_011545747.1:c.1255C>T	XP_011544049.1:p.Gln419Ter
XM_011545748.1:c.124C>T	XP_011544050.1:p.Gln42Ter
NM_144672.4:c.1255C>T MANE Select	NP_653273.3:p.Gln419Ter
XM_011545748.2:c.124C>T	XP_011544050.2:p.Gln42Ter
XR_002957775.1:n.350C>T
NM_001161683.2:c.1018C>T	NP_001155155.1:p.Gln340Ter
NM_170664.3:c.283C>T	NP_733764.1:p.Gln95Ter