Canonical Allele Identifier: CA395062708

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721396T>A (hg19) ; chr16:g.21710075T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710075T>A , CM000678.2:g.21710075T>A	GRCh38
NC_000016.9:g.21721396T>A , CM000678.1:g.21721396T>A	GRCh37
NC_000016.8:g.21628897T>A	NCBI36
NG_012973.1:g.36562T>A
NG_012973.2:g.50943T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1292T>A	ENSP00000373610.3:p.Leu431Ter
ENST00000646100.2:c.1292T>A MANE Select	ENSP00000496564.2:p.Leu431Ter
ENST00000647277.1:c.*106T>A	ENSP00000495594.1:n.*106T>A
ENST00000286149.8:c.1334T>A	ENSP00000286149.4:p.Leu445Ter
ENST00000388956.8:c.1055T>A	ENSP00000373608.4:p.Leu352Ter
ENST00000388957.3:c.320T>A	ENSP00000373609.3:p.Leu107Ter
ENST00000388958.7:c.1292T>A	ENSP00000373610.3:p.Leu431Ter
ENST00000563871.5:n.512T>A
NM_001161683.1:c.1055T>A	NP_001155155.1:p.Leu352Ter
NM_144672.3:c.1292T>A	NP_653273.3:p.Leu431Ter
NM_170664.2:c.320T>A	NP_733764.1:p.Leu107Ter
XM_011545747.1:c.1292T>A	XP_011544049.1:p.Leu431Ter
XM_011545748.1:c.161T>A	XP_011544050.1:p.Leu54Ter
NM_144672.4:c.1292T>A MANE Select	NP_653273.3:p.Leu431Ter
XM_011545748.2:c.161T>A	XP_011544050.2:p.Leu54Ter
XR_002957775.1:n.387T>A
NM_001161683.2:c.1055T>A	NP_001155155.1:p.Leu352Ter
NM_170664.3:c.320T>A	NP_733764.1:p.Leu107Ter