Canonical Allele Identifier: CA346135572

Gene: OTOF

Linked Data

• gnomAD v4: 2-26482513-A-T
• MyVariant Identifiers: chr2:g.26705381A>T (hg19) ; chr2:g.26482513A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1472T>A MANE Select	ENSP00000272371.2:p.Leu491His
ENST00000272371.6:c.1472T>A	ENSP00000272371.2:p.Leu491His
ENST00000403946.7:c.1472T>A	ENSP00000385255.3:p.Leu491His
NM_001287489.1:c.1472T>A	NP_001274418.1:p.Leu491His
NM_194248.2:c.1472T>A	NP_919224.1:p.Leu491His
XM_005264644.2:c.1517T>A	XP_005264701.1:p.Leu506His
XM_011533185.1:c.1517T>A	XP_011531487.1:p.Leu506His
XM_017005338.1:c.1472T>A	XP_016860827.1:p.Leu491His
NM_001287489.2:c.1472T>A	NP_001274418.1:p.Leu491His
NM_194248.3:c.1472T>A MANE Select	NP_919224.1:p.Leu491His