Canonical Allele Identifier: CA395062744

Gene: OTOA

Linked Data

• gnomAD v4: 16-21710090-T-C
• MyVariant Identifiers: chr16:g.21721411T>C (hg19) ; chr16:g.21710090T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710090T>C , CM000678.2:g.21710090T>C	GRCh38
NC_000016.9:g.21721411T>C , CM000678.1:g.21721411T>C	GRCh37
NC_000016.8:g.21628912T>C	NCBI36
NG_012973.1:g.36577T>C
NG_012973.2:g.50958T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1307T>C	ENSP00000373610.3:p.Leu436Ser
ENST00000646100.2:c.1307T>C MANE Select	ENSP00000496564.2:p.Leu436Ser
ENST00000647277.1:c.*121T>C	ENSP00000495594.1:n.*121T>C
ENST00000286149.8:c.1349T>C	ENSP00000286149.4:p.Leu450Ser
ENST00000388956.8:c.1070T>C	ENSP00000373608.4:p.Leu357Ser
ENST00000388957.3:c.335T>C	ENSP00000373609.3:p.Leu112Ser
ENST00000388958.7:c.1307T>C	ENSP00000373610.3:p.Leu436Ser
ENST00000563871.5:n.527T>C
NM_001161683.1:c.1070T>C	NP_001155155.1:p.Leu357Ser
NM_144672.3:c.1307T>C	NP_653273.3:p.Leu436Ser
NM_170664.2:c.335T>C	NP_733764.1:p.Leu112Ser
XM_011545747.1:c.1307T>C	XP_011544049.1:p.Leu436Ser
XM_011545748.1:c.176T>C	XP_011544050.1:p.Leu59Ser
NM_144672.4:c.1307T>C MANE Select	NP_653273.3:p.Leu436Ser
XM_011545748.2:c.176T>C	XP_011544050.2:p.Leu59Ser
XR_002957775.1:n.402T>C
NM_001161683.2:c.1070T>C	NP_001155155.1:p.Leu357Ser
NM_170664.3:c.335T>C	NP_733764.1:p.Leu112Ser