Canonical Allele Identifier: CA395062398

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721308C>G (hg19) ; chr16:g.21709987C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21709987C>G , CM000678.2:g.21709987C>G	GRCh38
NC_000016.9:g.21721308C>G , CM000678.1:g.21721308C>G	GRCh37
NC_000016.8:g.21628809C>G	NCBI36
NG_012973.1:g.36474C>G
NG_012973.2:g.50855C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1204C>G	ENSP00000373610.3:p.Leu402Val
ENST00000646100.2:c.1204C>G MANE Select	ENSP00000496564.2:p.Leu402Val
ENST00000647277.1:c.*18C>G	ENSP00000495594.1:n.*18C>G
ENST00000286149.8:c.1246C>G	ENSP00000286149.4:p.Leu416Val
ENST00000388956.8:c.967C>G	ENSP00000373608.4:p.Leu323Val
ENST00000388957.3:c.232C>G	ENSP00000373609.3:p.Leu78Val
ENST00000388958.7:c.1204C>G	ENSP00000373610.3:p.Leu402Val
ENST00000563871.5:n.424C>G
NM_001161683.1:c.967C>G	NP_001155155.1:p.Leu323Val
NM_144672.3:c.1204C>G	NP_653273.3:p.Leu402Val
NM_170664.2:c.232C>G	NP_733764.1:p.Leu78Val
XM_011545747.1:c.1204C>G	XP_011544049.1:p.Leu402Val
XM_011545748.1:c.73C>G	XP_011544050.1:p.Leu25Val
NM_144672.4:c.1204C>G MANE Select	NP_653273.3:p.Leu402Val
XM_011545748.2:c.73C>G	XP_011544050.2:p.Leu25Val
XR_002957775.1:n.299C>G
NM_001161683.2:c.967C>G	NP_001155155.1:p.Leu323Val
NM_170664.3:c.232C>G	NP_733764.1:p.Leu78Val