Canonical Allele Identifier: CA719051875

Gene: OTOA

Linked Data

• dbSNP Id: rs750602384
• gnomAD v3: 16-21736234-C-T
• gnomAD v4: 16-21736234-C-T
• MyVariant Identifiers: chr16:g.21747555C>T (hg19) ; chr16:g.21736234C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21736234C>T , CM000678.2:g.21736234C>T	GRCh38
NC_000016.9:g.21747555C>T , CM000678.1:g.21747555C>T	GRCh37
NC_000016.8:g.21655056C>T	NCBI36
NG_012973.1:g.62721C>T
NG_012973.2:g.77102C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.2302-27C>T	ENSP00000373610.3:n.2302-27C>T
ENST00000646100.2:c.2302-27C>T MANE Select	ENSP00000496564.2:n.2302-27C>T
ENST00000647277.1:c.*1116-27C>T	ENSP00000495594.1:n.*1116-27C>T
ENST00000286149.8:c.2344-27C>T	ENSP00000286149.4:n.2344-27C>T
ENST00000388956.8:c.2065-27C>T	ENSP00000373608.4:n.2065-27C>T
ENST00000388957.3:c.1330-27C>T	ENSP00000373609.3:n.1330-27C>T
ENST00000388958.7:c.2302-27C>T	ENSP00000373610.3:n.2302-27C>T
ENST00000563506.1:n.1361-27C>T
ENST00000563871.5:n.1765-27C>T
NM_001161683.1:c.2065-27C>T	NP_001155155.1:n.2065-27C>T
NM_144672.3:c.2302-27C>T	NP_653273.3:n.2302-27C>T
NM_170664.2:c.1330-27C>T	NP_733764.1:n.1330-27C>T
XM_011545747.1:c.2302-27C>T	XP_011544049.1:n.2302-27C>T
XM_011545748.1:c.1171-27C>T	XP_011544050.1:n.1171-27C>T
NM_144672.4:c.2302-27C>T MANE Select	NP_653273.3:n.2302-27C>T
XM_011545748.2:c.1171-27C>T	XP_011544050.2:n.1171-27C>T
XM_017022951.1:c.568-27C>T	XP_016878440.1:n.568-27C>T
XR_002957775.1:n.1397-27C>T
NM_001161683.2:c.2065-27C>T	NP_001155155.1:n.2065-27C>T
NM_170664.3:c.1330-27C>T	NP_733764.1:n.1330-27C>T