Canonical Allele Identifier: CA395062299

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721287G>C (hg19) ; chr16:g.21709966G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21709966G>C , CM000678.2:g.21709966G>C	GRCh38
NC_000016.9:g.21721287G>C , CM000678.1:g.21721287G>C	GRCh37
NC_000016.8:g.21628788G>C	NCBI36
NG_012973.1:g.36453G>C
NG_012973.2:g.50834G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1183G>C	ENSP00000373610.3:p.Val395Leu
ENST00000646100.2:c.1183G>C MANE Select	ENSP00000496564.2:p.Val395Leu
ENST00000647277.1:c.1059G>C	ENSP00000495594.1:p.Leu353Phe
ENST00000286149.8:c.1225G>C	ENSP00000286149.4:p.Val409Leu
ENST00000388956.8:c.946G>C	ENSP00000373608.4:p.Val316Leu
ENST00000388957.3:c.211G>C	ENSP00000373609.3:p.Val71Leu
ENST00000388958.7:c.1183G>C	ENSP00000373610.3:p.Val395Leu
ENST00000563871.5:n.403G>C
NM_001161683.1:c.946G>C	NP_001155155.1:p.Val316Leu
NM_144672.3:c.1183G>C	NP_653273.3:p.Val395Leu
NM_170664.2:c.211G>C	NP_733764.1:p.Val71Leu
XM_011545747.1:c.1183G>C	XP_011544049.1:p.Val395Leu
XM_011545748.1:c.52G>C	XP_011544050.1:p.Val18Leu
NM_144672.4:c.1183G>C MANE Select	NP_653273.3:p.Val395Leu
XM_011545748.2:c.52G>C	XP_011544050.2:p.Val18Leu
XR_002957775.1:n.278G>C
NM_001161683.2:c.946G>C	NP_001155155.1:p.Val316Leu
NM_170664.3:c.211G>C	NP_733764.1:p.Val71Leu