Canonical Allele Identifier: CA395062528

Gene: OTOA

Linked Data

• dbSNP Id: rs759207766
• gnomAD v4: 16-21710015-A-C
• MyVariant Identifiers: chr16:g.21721336A>C (hg19) ; chr16:g.21710015A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710015A>C , CM000678.2:g.21710015A>C	GRCh38
NC_000016.9:g.21721336A>C , CM000678.1:g.21721336A>C	GRCh37
NC_000016.8:g.21628837A>C	NCBI36
NG_012973.1:g.36502A>C
NG_012973.2:g.50883A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1232A>C	ENSP00000373610.3:p.His411Pro
ENST00000646100.2:c.1232A>C MANE Select	ENSP00000496564.2:p.His411Pro
ENST00000647277.1:c.*46A>C	ENSP00000495594.1:n.*46A>C
ENST00000286149.8:c.1274A>C	ENSP00000286149.4:p.His425Pro
ENST00000388956.8:c.995A>C	ENSP00000373608.4:p.His332Pro
ENST00000388957.3:c.260A>C	ENSP00000373609.3:p.His87Pro
ENST00000388958.7:c.1232A>C	ENSP00000373610.3:p.His411Pro
ENST00000563871.5:n.452A>C
NM_001161683.1:c.995A>C	NP_001155155.1:p.His332Pro
NM_144672.3:c.1232A>C	NP_653273.3:p.His411Pro
NM_170664.2:c.260A>C	NP_733764.1:p.His87Pro
XM_011545747.1:c.1232A>C	XP_011544049.1:p.His411Pro
XM_011545748.1:c.101A>C	XP_011544050.1:p.His34Pro
NM_144672.4:c.1232A>C MANE Select	NP_653273.3:p.His411Pro
XM_011545748.2:c.101A>C	XP_011544050.2:p.His34Pro
XR_002957775.1:n.327A>C
NM_001161683.2:c.995A>C	NP_001155155.1:p.His332Pro
NM_170664.3:c.260A>C	NP_733764.1:p.His87Pro