Canonical Allele Identifier: CA395062046

Gene: OTOA

Linked Data

• gnomAD v4: 16-21728278-T-C
• MyVariant Identifiers: chr16:g.21739599T>C (hg19) ; chr16:g.21728278T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21728278T>C , CM000678.2:g.21728278T>C	GRCh38
NC_000016.9:g.21739599T>C , CM000678.1:g.21739599T>C	GRCh37
NC_000016.8:g.21647100T>C	NCBI36
NG_012973.1:g.54765T>C
NG_012973.2:g.69146T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000388958.8:c.2054T>C	ENSP00000373610.3:p.Met685Thr
ENST00000646100.2:c.2054T>C MANE Select	ENSP00000496564.2:p.Met685Thr
ENST00000647277.1:c.*868T>C	ENSP00000495594.1:n.*868T>C
ENST00000286149.8:c.2096T>C	ENSP00000286149.4:p.Met699Thr
ENST00000388956.8:c.1817T>C	ENSP00000373608.4:p.Met606Thr
ENST00000388957.3:c.1082T>C	ENSP00000373609.3:p.Met361Thr
ENST00000388958.7:c.2054T>C	ENSP00000373610.3:p.Met685Thr
ENST00000563871.5:n.1517T>C
NM_001161683.1:c.1817T>C	NP_001155155.1:p.Met606Thr
NM_144672.3:c.2054T>C	NP_653273.3:p.Met685Thr
NM_170664.2:c.1082T>C	NP_733764.1:p.Met361Thr
XM_011545747.1:c.2054T>C	XP_011544049.1:p.Met685Thr
XM_011545748.1:c.923T>C	XP_011544050.1:p.Met308Thr
NM_144672.4:c.2054T>C MANE Select	NP_653273.3:p.Met685Thr
XM_011545748.2:c.923T>C	XP_011544050.2:p.Met308Thr
XM_017022951.1:c.320T>C	XP_016878440.1:p.Met107Thr
XR_002957775.1:n.1149T>C
NM_001161683.2:c.1817T>C	NP_001155155.1:p.Met606Thr
NM_170664.3:c.1082T>C	NP_733764.1:p.Met361Thr