Canonical Allele Identifier: CA395062618

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721356A>C (hg19) ; chr16:g.21710035A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710035A>C , CM000678.2:g.21710035A>C	GRCh38
NC_000016.9:g.21721356A>C , CM000678.1:g.21721356A>C	GRCh37
NC_000016.8:g.21628857A>C	NCBI36
NG_012973.1:g.36522A>C
NG_012973.2:g.50903A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1252A>C	ENSP00000373610.3:p.Asn418His
ENST00000646100.2:c.1252A>C MANE Select	ENSP00000496564.2:p.Asn418His
ENST00000647277.1:c.*66A>C	ENSP00000495594.1:n.*66A>C
ENST00000286149.8:c.1294A>C	ENSP00000286149.4:p.Asn432His
ENST00000388956.8:c.1015A>C	ENSP00000373608.4:p.Asn339His
ENST00000388957.3:c.280A>C	ENSP00000373609.3:p.Asn94His
ENST00000388958.7:c.1252A>C	ENSP00000373610.3:p.Asn418His
ENST00000563871.5:n.472A>C
NM_001161683.1:c.1015A>C	NP_001155155.1:p.Asn339His
NM_144672.3:c.1252A>C	NP_653273.3:p.Asn418His
NM_170664.2:c.280A>C	NP_733764.1:p.Asn94His
XM_011545747.1:c.1252A>C	XP_011544049.1:p.Asn418His
XM_011545748.1:c.121A>C	XP_011544050.1:p.Asn41His
NM_144672.4:c.1252A>C MANE Select	NP_653273.3:p.Asn418His
XM_011545748.2:c.121A>C	XP_011544050.2:p.Asn41His
XR_002957775.1:n.347A>C
NM_001161683.2:c.1015A>C	NP_001155155.1:p.Asn339His
NM_170664.3:c.280A>C	NP_733764.1:p.Asn94His