Canonical Allele Identifier: CA7952578

Gene: OTOA

Linked Data

• ClinVar Variation Id: 1462794
• ClinVar RCV Id: RCV001954351 ; RCV002466723 ; RCV003418264
• dbSNP Id: rs200689333
• ExAC: 16:21721369 G / T
• gnomAD v2: 16-21721369-G-T
• gnomAD v3: 16-21710048-G-T
• gnomAD v4: 16-21710048-G-T
• MyVariant Identifiers: chr16:g.21721369G>T (hg19) ; chr16:g.21710048G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710048G>T , CM000678.2:g.21710048G>T	GRCh38
NC_000016.9:g.21721369G>T , CM000678.1:g.21721369G>T	GRCh37
NC_000016.8:g.21628870G>T	NCBI36
NG_012973.1:g.36535G>T
NG_012973.2:g.50916G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1265G>T	ENSP00000373610.3:p.Gly422Val
ENST00000646100.2:c.1265G>T MANE Select	ENSP00000496564.2:p.Gly422Val
ENST00000647277.1:c.*79G>T	ENSP00000495594.1:n.*79G>T
ENST00000286149.8:c.1307G>T	ENSP00000286149.4:p.Gly436Val
ENST00000388956.8:c.1028G>T	ENSP00000373608.4:p.Gly343Val
ENST00000388957.3:c.293G>T	ENSP00000373609.3:p.Gly98Val
ENST00000388958.7:c.1265G>T	ENSP00000373610.3:p.Gly422Val
ENST00000563871.5:n.485G>T
NM_001161683.1:c.1028G>T	NP_001155155.1:p.Gly343Val
NM_144672.3:c.1265G>T	NP_653273.3:p.Gly422Val
NM_170664.2:c.293G>T	NP_733764.1:p.Gly98Val
XM_011545747.1:c.1265G>T	XP_011544049.1:p.Gly422Val
XM_011545748.1:c.134G>T	XP_011544050.1:p.Gly45Val
NM_144672.4:c.1265G>T MANE Select	NP_653273.3:p.Gly422Val
XM_011545748.2:c.134G>T	XP_011544050.2:p.Gly45Val
XR_002957775.1:n.360G>T
NM_001161683.2:c.1028G>T	NP_001155155.1:p.Gly343Val
NM_170664.3:c.293G>T	NP_733764.1:p.Gly98Val