Canonical Allele Identifier: CA346135567

Gene: OTOF

Linked Data

• MyVariant Identifiers: chr2:g.26705381A>C (hg19) ; chr2:g.26482513A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482513A>C , CM000664.2:g.26482513A>C	GRCh38
NC_000002.11:g.26705381A>C , CM000664.1:g.26705381A>C	GRCh37
NC_000002.10:g.26558885A>C	NCBI36
NG_009937.1:g.81186T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1472T>G MANE Select	ENSP00000272371.2:p.Leu491Arg
ENST00000272371.6:c.1472T>G	ENSP00000272371.2:p.Leu491Arg
ENST00000403946.7:c.1472T>G	ENSP00000385255.3:p.Leu491Arg
NM_001287489.1:c.1472T>G	NP_001274418.1:p.Leu491Arg
NM_194248.2:c.1472T>G	NP_919224.1:p.Leu491Arg
XM_005264644.2:c.1517T>G	XP_005264701.1:p.Leu506Arg
XM_011533185.1:c.1517T>G	XP_011531487.1:p.Leu506Arg
XM_017005338.1:c.1472T>G	XP_016860827.1:p.Leu491Arg
NM_001287489.2:c.1472T>G	NP_001274418.1:p.Leu491Arg
NM_194248.3:c.1472T>G MANE Select	NP_919224.1:p.Leu491Arg