Canonical Allele Identifier: CA395062433

Gene: OTOA

Linked Data

• gnomAD v4: 16-21728383-A-G
• MyVariant Identifiers: chr16:g.21739704A>G (hg19) ; chr16:g.21728383A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21728383A>G , CM000678.2:g.21728383A>G	GRCh38
NC_000016.9:g.21739704A>G , CM000678.1:g.21739704A>G	GRCh37
NC_000016.8:g.21647205A>G	NCBI36
NG_012973.1:g.54870A>G
NG_012973.2:g.69251A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000388958.8:c.2159A>G	ENSP00000373610.3:p.Asn720Ser
ENST00000646100.2:c.2159A>G MANE Select	ENSP00000496564.2:p.Asn720Ser
ENST00000647277.1:c.*973A>G	ENSP00000495594.1:n.*973A>G
ENST00000286149.8:c.2201A>G	ENSP00000286149.4:p.Asn734Ser
ENST00000388956.8:c.1922A>G	ENSP00000373608.4:p.Asn641Ser
ENST00000388957.3:c.1187A>G	ENSP00000373609.3:p.Asn396Ser
ENST00000388958.7:c.2159A>G	ENSP00000373610.3:p.Asn720Ser
ENST00000563871.5:n.1622A>G
NM_001161683.1:c.1922A>G	NP_001155155.1:p.Asn641Ser
NM_144672.3:c.2159A>G	NP_653273.3:p.Asn720Ser
NM_170664.2:c.1187A>G	NP_733764.1:p.Asn396Ser
XM_011545747.1:c.2159A>G	XP_011544049.1:p.Asn720Ser
XM_011545748.1:c.1028A>G	XP_011544050.1:p.Asn343Ser
NM_144672.4:c.2159A>G MANE Select	NP_653273.3:p.Asn720Ser
XM_011545748.2:c.1028A>G	XP_011544050.2:p.Asn343Ser
XM_017022951.1:c.425A>G	XP_016878440.1:p.Asn142Ser
XR_002957775.1:n.1254A>G
NM_001161683.2:c.1922A>G	NP_001155155.1:p.Asn641Ser
NM_170664.3:c.1187A>G	NP_733764.1:p.Asn396Ser