Canonical Allele Identifier: CA7952546

Gene: OTOA

Linked Data

• ClinVar Variation Id: 1194954
• ClinVar RCV Id: RCV001557868
• dbSNP Id: rs201485008
• ExAC: 16:21721181 C / T
• gnomAD v2: 16-21721181-C-T
• gnomAD v3: 16-21709860-C-T
• gnomAD v4: 16-21709860-C-T
• MyVariant Identifiers: chr16:g.21721181C>T (hg19) ; chr16:g.21709860C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21709860C>T , CM000678.2:g.21709860C>T	GRCh38
NC_000016.9:g.21721181C>T , CM000678.1:g.21721181C>T	GRCh37
NC_000016.8:g.21628682C>T	NCBI36
NG_012973.1:g.36347C>T
NG_012973.2:g.50728C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000388958.8:c.1105-28C>T	ENSP00000373610.3:n.1105-28C>T
ENST00000646100.2:c.1105-28C>T MANE Select	ENSP00000496564.2:n.1105-28C>T
ENST00000647277.1:c.981-28C>T	ENSP00000495594.1:n.981-28C>T
ENST00000286149.8:c.1147-28C>T	ENSP00000286149.4:n.1147-28C>T
ENST00000388956.8:c.868-28C>T	ENSP00000373608.4:n.868-28C>T
ENST00000388957.3:c.133-28C>T	ENSP00000373609.3:n.133-28C>T
ENST00000388958.7:c.1105-28C>T	ENSP00000373610.3:n.1105-28C>T
ENST00000563871.5:n.325-28C>T
ENST00000569064.1:n.479-28C>T
NM_001161683.1:c.868-28C>T	NP_001155155.1:n.868-28C>T
NM_144672.3:c.1105-28C>T	NP_653273.3:n.1105-28C>T
NM_170664.2:c.133-28C>T	NP_733764.1:n.133-28C>T
XM_011545747.1:c.1105-28C>T	XP_011544049.1:n.1105-28C>T
XM_011545748.1:c.-27-28C>T	XP_011544050.1:n.-27-28C>T
NM_144672.4:c.1105-28C>T MANE Select	NP_653273.3:n.1105-28C>T
XM_011545748.2:c.-27-28C>T	XP_011544050.2:n.-27-28C>T
XR_002957775.1:n.200-28C>T
NM_001161683.2:c.868-28C>T	NP_001155155.1:n.868-28C>T
NM_170664.3:c.133-28C>T	NP_733764.1:n.133-28C>T