Canonical Allele Identifier: CA395062775

Gene: OTOA

Linked Data

• MyVariant Identifiers: chr16:g.21721424G>C (hg19) ; chr16:g.21710103G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710103G>C , CM000678.2:g.21710103G>C	GRCh38
NC_000016.9:g.21721424G>C , CM000678.1:g.21721424G>C	GRCh37
NC_000016.8:g.21628925G>C	NCBI36
NG_012973.1:g.36590G>C
NG_012973.2:g.50971G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1320G>C	ENSP00000373610.3:p.Lys440Asn
ENST00000646100.2:c.1320G>C MANE Select	ENSP00000496564.2:p.Lys440Asn
ENST00000647277.1:c.*134G>C	ENSP00000495594.1:n.*134G>C
ENST00000286149.8:c.1362G>C	ENSP00000286149.4:p.Lys454Asn
ENST00000388956.8:c.1083G>C	ENSP00000373608.4:p.Lys361Asn
ENST00000388957.3:c.348G>C	ENSP00000373609.3:p.Lys116Asn
ENST00000388958.7:c.1320G>C	ENSP00000373610.3:p.Lys440Asn
ENST00000563871.5:n.540G>C
NM_001161683.1:c.1083G>C	NP_001155155.1:p.Lys361Asn
NM_144672.3:c.1320G>C	NP_653273.3:p.Lys440Asn
NM_170664.2:c.348G>C	NP_733764.1:p.Lys116Asn
XM_011545747.1:c.1320G>C	XP_011544049.1:p.Lys440Asn
XM_011545748.1:c.189G>C	XP_011544050.1:p.Lys63Asn
NM_144672.4:c.1320G>C MANE Select	NP_653273.3:p.Lys440Asn
XM_011545748.2:c.189G>C	XP_011544050.2:p.Lys63Asn
XR_002957775.1:n.415G>C
NM_001161683.2:c.1083G>C	NP_001155155.1:p.Lys361Asn
NM_170664.3:c.348G>C	NP_733764.1:p.Lys116Asn