Canonical Allele Identifier: CA346135158

Gene: OTOF

Linked Data

• ClinVar Variation Id: 560901
• ClinVar RCV Id: RCV000679829 ; RCV001291115
• dbSNP Id: rs1558490542
• MyVariant Identifiers: chr2:g.26705303A>G (hg19) ; chr2:g.26482435A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482435A>G , CM000664.2:g.26482435A>G	GRCh38
NC_000002.11:g.26705303A>G , CM000664.1:g.26705303A>G	GRCh37
NC_000002.10:g.26558807A>G	NCBI36
NG_009937.1:g.81264T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1550T>C MANE Select	ENSP00000272371.2:p.Leu517Pro
ENST00000272371.6:c.1550T>C	ENSP00000272371.2:p.Leu517Pro
ENST00000403946.7:c.1550T>C	ENSP00000385255.3:p.Leu517Pro
NM_001287489.1:c.1550T>C	NP_001274418.1:p.Leu517Pro
NM_194248.2:c.1550T>C	NP_919224.1:p.Leu517Pro
XM_005264644.2:c.1595T>C	XP_005264701.1:p.Leu532Pro
XM_011533185.1:c.1595T>C	XP_011531487.1:p.Leu532Pro
XM_017005338.1:c.1550T>C	XP_016860827.1:p.Leu517Pro
NM_001287489.2:c.1550T>C	NP_001274418.1:p.Leu517Pro
NM_194248.3:c.1550T>C MANE Select	NP_919224.1:p.Leu517Pro