Canonical Allele Identifier: CA395062652

Gene: OTOA

Linked Data

• gnomAD v4: 16-21710051-G-C
• MyVariant Identifiers: chr16:g.21721372G>C (hg19) ; chr16:g.21710051G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710051G>C , CM000678.2:g.21710051G>C	GRCh38
NC_000016.9:g.21721372G>C , CM000678.1:g.21721372G>C	GRCh37
NC_000016.8:g.21628873G>C	NCBI36
NG_012973.1:g.36538G>C
NG_012973.2:g.50919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1268G>C	ENSP00000373610.3:p.Trp423Ser
ENST00000646100.2:c.1268G>C MANE Select	ENSP00000496564.2:p.Trp423Ser
ENST00000647277.1:c.*82G>C	ENSP00000495594.1:n.*82G>C
ENST00000286149.8:c.1310G>C	ENSP00000286149.4:p.Trp437Ser
ENST00000388956.8:c.1031G>C	ENSP00000373608.4:p.Trp344Ser
ENST00000388957.3:c.296G>C	ENSP00000373609.3:p.Trp99Ser
ENST00000388958.7:c.1268G>C	ENSP00000373610.3:p.Trp423Ser
ENST00000563871.5:n.488G>C
NM_001161683.1:c.1031G>C	NP_001155155.1:p.Trp344Ser
NM_144672.3:c.1268G>C	NP_653273.3:p.Trp423Ser
NM_170664.2:c.296G>C	NP_733764.1:p.Trp99Ser
XM_011545747.1:c.1268G>C	XP_011544049.1:p.Trp423Ser
XM_011545748.1:c.137G>C	XP_011544050.1:p.Trp46Ser
NM_144672.4:c.1268G>C MANE Select	NP_653273.3:p.Trp423Ser
XM_011545748.2:c.137G>C	XP_011544050.2:p.Trp46Ser
XR_002957775.1:n.363G>C
NM_001161683.2:c.1031G>C	NP_001155155.1:p.Trp344Ser
NM_170664.3:c.296G>C	NP_733764.1:p.Trp99Ser