Canonical Allele Identifier: CA395062605

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721353C>A (hg19) ; chr16:g.21710032C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710032C>A , CM000678.2:g.21710032C>A	GRCh38
NC_000016.9:g.21721353C>A , CM000678.1:g.21721353C>A	GRCh37
NC_000016.8:g.21628854C>A	NCBI36
NG_012973.1:g.36519C>A
NG_012973.2:g.50900C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1249C>A	ENSP00000373610.3:p.Leu417Ile
ENST00000646100.2:c.1249C>A MANE Select	ENSP00000496564.2:p.Leu417Ile
ENST00000647277.1:c.*63C>A	ENSP00000495594.1:n.*63C>A
ENST00000286149.8:c.1291C>A	ENSP00000286149.4:p.Leu431Ile
ENST00000388956.8:c.1012C>A	ENSP00000373608.4:p.Leu338Ile
ENST00000388957.3:c.277C>A	ENSP00000373609.3:p.Leu93Ile
ENST00000388958.7:c.1249C>A	ENSP00000373610.3:p.Leu417Ile
ENST00000563871.5:n.469C>A
NM_001161683.1:c.1012C>A	NP_001155155.1:p.Leu338Ile
NM_144672.3:c.1249C>A	NP_653273.3:p.Leu417Ile
NM_170664.2:c.277C>A	NP_733764.1:p.Leu93Ile
XM_011545747.1:c.1249C>A	XP_011544049.1:p.Leu417Ile
XM_011545748.1:c.118C>A	XP_011544050.1:p.Leu40Ile
NM_144672.4:c.1249C>A MANE Select	NP_653273.3:p.Leu417Ile
XM_011545748.2:c.118C>A	XP_011544050.2:p.Leu40Ile
XR_002957775.1:n.344C>A
NM_001161683.2:c.1012C>A	NP_001155155.1:p.Leu338Ile
NM_170664.3:c.277C>A	NP_733764.1:p.Leu93Ile