Canonical Allele Identifier: CA7952752

Gene: OTOA

Linked Data

• ClinVar Variation Id: 521781
• ClinVar RCV Id: RCV000622552 ; RCV002531904
• dbSNP Id: rs755291566
• ExAC: 16:21730746 T / C
• gnomAD v2: 16-21730746-T-C
• gnomAD v3: 16-21719425-T-C
• gnomAD v4: 16-21719425-T-C
• MyVariant Identifiers: chr16:g.21730746T>C (hg19) ; chr16:g.21719425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21719425T>C , CM000678.2:g.21719425T>C	GRCh38
NC_000016.9:g.21730746T>C , CM000678.1:g.21730746T>C	GRCh37
NC_000016.8:g.21638247T>C	NCBI36
NG_012973.1:g.45912T>C
NG_012973.2:g.60293T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1727T>C	ENSP00000373610.3:p.Ile576Thr
ENST00000646100.2:c.1727T>C MANE Select	ENSP00000496564.2:p.Ile576Thr
ENST00000647277.1:c.*541T>C	ENSP00000495594.1:n.*541T>C
ENST00000286149.8:c.1769T>C	ENSP00000286149.4:p.Ile590Thr
ENST00000388956.8:c.1490T>C	ENSP00000373608.4:p.Ile497Thr
ENST00000388957.3:c.755T>C	ENSP00000373609.3:p.Ile252Thr
ENST00000388958.7:c.1727T>C	ENSP00000373610.3:p.Ile576Thr
ENST00000563871.5:n.1142T>C
NM_001161683.1:c.1490T>C	NP_001155155.1:p.Ile497Thr
NM_144672.3:c.1727T>C	NP_653273.3:p.Ile576Thr
NM_170664.2:c.755T>C	NP_733764.1:p.Ile252Thr
XM_011545747.1:c.1727T>C	XP_011544049.1:p.Ile576Thr
XM_011545748.1:c.596T>C	XP_011544050.1:p.Ile199Thr
NM_144672.4:c.1727T>C MANE Select	NP_653273.3:p.Ile576Thr
XM_011545748.2:c.596T>C	XP_011544050.2:p.Ile199Thr
XM_017022951.1:c.-8T>C	XP_016878440.1:n.-8T>C
XR_002957775.1:n.822T>C
NM_001161683.2:c.1490T>C	NP_001155155.1:p.Ile497Thr
NM_170664.3:c.755T>C	NP_733764.1:p.Ile252Thr