Canonical Allele Identifier: CA395062393

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21739694C>A (hg19) ; chr16:g.21728373C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21728373C>A , CM000678.2:g.21728373C>A	GRCh38
NC_000016.9:g.21739694C>A , CM000678.1:g.21739694C>A	GRCh37
NC_000016.8:g.21647195C>A	NCBI36
NG_012973.1:g.54860C>A
NG_012973.2:g.69241C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000388958.8:c.2149C>A	ENSP00000373610.3:p.Pro717Thr
ENST00000646100.2:c.2149C>A MANE Select	ENSP00000496564.2:p.Pro717Thr
ENST00000647277.1:c.*963C>A	ENSP00000495594.1:n.*963C>A
ENST00000286149.8:c.2191C>A	ENSP00000286149.4:p.Pro731Thr
ENST00000388956.8:c.1912C>A	ENSP00000373608.4:p.Pro638Thr
ENST00000388957.3:c.1177C>A	ENSP00000373609.3:p.Pro393Thr
ENST00000388958.7:c.2149C>A	ENSP00000373610.3:p.Pro717Thr
ENST00000563871.5:n.1612C>A
NM_001161683.1:c.1912C>A	NP_001155155.1:p.Pro638Thr
NM_144672.3:c.2149C>A	NP_653273.3:p.Pro717Thr
NM_170664.2:c.1177C>A	NP_733764.1:p.Pro393Thr
XM_011545747.1:c.2149C>A	XP_011544049.1:p.Pro717Thr
XM_011545748.1:c.1018C>A	XP_011544050.1:p.Pro340Thr
NM_144672.4:c.2149C>A MANE Select	NP_653273.3:p.Pro717Thr
XM_011545748.2:c.1018C>A	XP_011544050.2:p.Pro340Thr
XM_017022951.1:c.415C>A	XP_016878440.1:p.Pro139Thr
XR_002957775.1:n.1244C>A
NM_001161683.2:c.1912C>A	NP_001155155.1:p.Pro638Thr
NM_170664.3:c.1177C>A	NP_733764.1:p.Pro393Thr