Canonical Allele Identifier: CA395062556

Gene: OTOA

Linked Data

• gnomAD v4: 16-21710021-C-T
• MyVariant Identifiers: chr16:g.21721342C>T (hg19) ; chr16:g.21710021C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710021C>T , CM000678.2:g.21710021C>T	GRCh38
NC_000016.9:g.21721342C>T , CM000678.1:g.21721342C>T	GRCh37
NC_000016.8:g.21628843C>T	NCBI36
NG_012973.1:g.36508C>T
NG_012973.2:g.50889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1238C>T	ENSP00000373610.3:p.Ala413Val
ENST00000646100.2:c.1238C>T MANE Select	ENSP00000496564.2:p.Ala413Val
ENST00000647277.1:c.*52C>T	ENSP00000495594.1:n.*52C>T
ENST00000286149.8:c.1280C>T	ENSP00000286149.4:p.Ala427Val
ENST00000388956.8:c.1001C>T	ENSP00000373608.4:p.Ala334Val
ENST00000388957.3:c.266C>T	ENSP00000373609.3:p.Ala89Val
ENST00000388958.7:c.1238C>T	ENSP00000373610.3:p.Ala413Val
ENST00000563871.5:n.458C>T
NM_001161683.1:c.1001C>T	NP_001155155.1:p.Ala334Val
NM_144672.3:c.1238C>T	NP_653273.3:p.Ala413Val
NM_170664.2:c.266C>T	NP_733764.1:p.Ala89Val
XM_011545747.1:c.1238C>T	XP_011544049.1:p.Ala413Val
XM_011545748.1:c.107C>T	XP_011544050.1:p.Ala36Val
NM_144672.4:c.1238C>T MANE Select	NP_653273.3:p.Ala413Val
XM_011545748.2:c.107C>T	XP_011544050.2:p.Ala36Val
XR_002957775.1:n.333C>T
NM_001161683.2:c.1001C>T	NP_001155155.1:p.Ala334Val
NM_170664.3:c.266C>T	NP_733764.1:p.Ala89Val