Canonical Allele Identifier: CA279403738

Gene: OTOA

Linked Data

• dbSNP Id: rs760696070
• gnomAD v4: 16-21710023-A-T
• MyVariant Identifiers: chr16:g.21721344A>T (hg19) ; chr16:g.21710023A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710023A>T , CM000678.2:g.21710023A>T	GRCh38
NC_000016.9:g.21721344A>T , CM000678.1:g.21721344A>T	GRCh37
NC_000016.8:g.21628845A>T	NCBI36
NG_012973.1:g.36510A>T
NG_012973.2:g.50891A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1240A>T	ENSP00000373610.3:p.Ile414Phe
ENST00000646100.2:c.1240A>T MANE Select	ENSP00000496564.2:p.Ile414Phe
ENST00000647277.1:c.*54A>T	ENSP00000495594.1:n.*54A>T
ENST00000286149.8:c.1282A>T	ENSP00000286149.4:p.Ile428Phe
ENST00000388956.8:c.1003A>T	ENSP00000373608.4:p.Ile335Phe
ENST00000388957.3:c.268A>T	ENSP00000373609.3:p.Ile90Phe
ENST00000388958.7:c.1240A>T	ENSP00000373610.3:p.Ile414Phe
ENST00000563871.5:n.460A>T
NM_001161683.1:c.1003A>T	NP_001155155.1:p.Ile335Phe
NM_144672.3:c.1240A>T	NP_653273.3:p.Ile414Phe
NM_170664.2:c.268A>T	NP_733764.1:p.Ile90Phe
XM_011545747.1:c.1240A>T	XP_011544049.1:p.Ile414Phe
XM_011545748.1:c.109A>T	XP_011544050.1:p.Ile37Phe
NM_144672.4:c.1240A>T MANE Select	NP_653273.3:p.Ile414Phe
XM_011545748.2:c.109A>T	XP_011544050.2:p.Ile37Phe
XR_002957775.1:n.335A>T
NM_001161683.2:c.1003A>T	NP_001155155.1:p.Ile335Phe
NM_170664.3:c.268A>T	NP_733764.1:p.Ile90Phe