Canonical Allele Identifier: CA346132906

Gene: OTOF

Linked Data

• dbSNP Id: rs1558489450
• gnomAD v4: 2-26480830-T-A
• MyVariant Identifiers: chr2:g.26703698T>A (hg19) ; chr2:g.26480830T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26480830T>A , CM000664.2:g.26480830T>A	GRCh38
NC_000002.11:g.26703698T>A , CM000664.1:g.26703698T>A	GRCh37
NC_000002.10:g.26557202T>A	NCBI36
NG_009937.1:g.82869A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1759A>T MANE Select	ENSP00000272371.2:p.Ser587Cys
ENST00000272371.6:c.1759A>T	ENSP00000272371.2:p.Ser587Cys
ENST00000403946.7:c.1759A>T	ENSP00000385255.3:p.Ser587Cys
NM_001287489.1:c.1759A>T	NP_001274418.1:p.Ser587Cys
NM_194248.2:c.1759A>T	NP_919224.1:p.Ser587Cys
XM_005264644.2:c.1804A>T	XP_005264701.1:p.Ser602Cys
XM_011533185.1:c.1804A>T	XP_011531487.1:p.Ser602Cys
XM_017005338.1:c.1759A>T	XP_016860827.1:p.Ser587Cys
NM_001287489.2:c.1759A>T	NP_001274418.1:p.Ser587Cys
NM_194248.3:c.1759A>T MANE Select	NP_919224.1:p.Ser587Cys