Canonical Allele Identifier: CA2212563564

Gene: OTOA

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1249C=	ENSP00000373610.3:p.Leu417=
ENST00000646100.2:c.1249C= MANE Select	ENSP00000496564.2:p.Leu417=
ENST00000647277.1:c.*63C=	ENSP00000495594.1:n.*63C=
ENST00000286149.8:c.1291C=	ENSP00000286149.4:p.Leu431=
ENST00000388956.8:c.1012C=	ENSP00000373608.4:p.Leu338=
ENST00000388957.3:c.277C=	ENSP00000373609.3:p.Leu93=
ENST00000388958.7:c.1249C=	ENSP00000373610.3:p.Leu417=
ENST00000563871.5:n.469C=
NM_001161683.1:c.1012C=	NP_001155155.1:p.Leu338=
NM_144672.3:c.1249C=	NP_653273.3:p.Leu417=
NM_170664.2:c.277C=	NP_733764.1:p.Leu93=
XM_011545747.1:c.1249C=	XP_011544049.1:p.Leu417=
XM_011545748.1:c.118C=	XP_011544050.1:p.Leu40=
NM_144672.4:c.1249C= MANE Select	NP_653273.3:p.Leu417=
XM_011545748.2:c.118C=	XP_011544050.2:p.Leu40=
XR_002957775.1:n.344C=
NM_001161683.2:c.1012C=	NP_001155155.1:p.Leu338=
NM_170664.3:c.277C=	NP_733764.1:p.Leu93=