Canonical Allele Identifier: CA395062207

Gene: OTOA

Linked Data

• dbSNP Id: rs1200385682
• gnomAD v2: 16-21721267-G-A
• gnomAD v4: 16-21709946-G-A
• MyVariant Identifiers: chr16:g.21721267G>A (hg19) ; chr16:g.21709946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21709946G>A , CM000678.2:g.21709946G>A	GRCh38
NC_000016.9:g.21721267G>A , CM000678.1:g.21721267G>A	GRCh37
NC_000016.8:g.21628768G>A	NCBI36
NG_012973.1:g.36433G>A
NG_012973.2:g.50814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1163G>A	ENSP00000373610.3:p.Gly388Asp
ENST00000646100.2:c.1163G>A MANE Select	ENSP00000496564.2:p.Gly388Asp
ENST00000647277.1:c.1039G>A	ENSP00000495594.1:p.Val347Ile
ENST00000286149.8:c.1205G>A	ENSP00000286149.4:p.Gly402Asp
ENST00000388956.8:c.926G>A	ENSP00000373608.4:p.Gly309Asp
ENST00000388957.3:c.191G>A	ENSP00000373609.3:p.Gly64Asp
ENST00000388958.7:c.1163G>A	ENSP00000373610.3:p.Gly388Asp
ENST00000563871.5:n.383G>A
ENST00000569064.1:n.537G>A
NM_001161683.1:c.926G>A	NP_001155155.1:p.Gly309Asp
NM_144672.3:c.1163G>A	NP_653273.3:p.Gly388Asp
NM_170664.2:c.191G>A	NP_733764.1:p.Gly64Asp
XM_011545747.1:c.1163G>A	XP_011544049.1:p.Gly388Asp
XM_011545748.1:c.32G>A	XP_011544050.1:p.Gly11Asp
NM_144672.4:c.1163G>A MANE Select	NP_653273.3:p.Gly388Asp
XM_011545748.2:c.32G>A	XP_011544050.2:p.Gly11Asp
XR_002957775.1:n.258G>A
NM_001161683.2:c.926G>A	NP_001155155.1:p.Gly309Asp
NM_170664.3:c.191G>A	NP_733764.1:p.Gly64Asp