Canonical Allele Identifier: CA346127669

Gene: OTOF

Linked Data

• gnomAD v4: 2-26460120-G-T
• MyVariant Identifiers: chr2:g.26682988G>T (hg19) ; chr2:g.26460120G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460120G>T , CM000664.2:g.26460120G>T	GRCh38
NC_000002.11:g.26682988G>T , CM000664.1:g.26682988G>T	GRCh37
NC_000002.10:g.26536492G>T	NCBI36
NG_009937.1:g.103579C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.5899C>A MANE Select	ENSP00000272371.2:p.Leu1967Ile
ENST00000339598.8:c.3512+527C>A MANE Plus Clinical	ENSP00000344521.3:n.3512+527C>A
ENST00000402415.8:c.3658C>A	ENSP00000383906.4:p.Leu1220Ile
ENST00000272371.6:c.5899C>A	ENSP00000272371.2:p.Leu1967Ile
ENST00000338581.10:c.3598C>A	ENSP00000345137.6:p.Leu1200Ile
ENST00000339598.7:c.3512+527C>A	ENSP00000344521.3:n.3512+527C>A
ENST00000402415.7:c.3829C>A	ENSP00000383906.3:p.Leu1277Ile
ENST00000403946.7:c.5813+527C>A	ENSP00000385255.3:n.5813+527C>A
NM_001287489.1:c.5813+527C>A	NP_001274418.1:n.5813+527C>A
NM_004802.3:c.3598C>A	NP_004793.2:p.Leu1200Ile
NM_194248.2:c.5899C>A	NP_919224.1:p.Leu1967Ile
NM_194322.2:c.3829C>A	NP_919303.1:p.Leu1277Ile
NM_194323.2:c.3512+527C>A	NP_919304.1:n.3512+527C>A
XM_005264644.2:c.5798+527C>A	XP_005264701.1:n.5798+527C>A
XM_011533185.1:c.5858+527C>A	XP_011531487.1:n.5858+527C>A
XM_017005338.1:c.5839C>A	XP_016860827.1:p.Leu1947Ile
NM_001287489.2:c.5813+527C>A	NP_001274418.1:n.5813+527C>A
NM_004802.4:c.3598C>A	NP_004793.2:p.Leu1200Ile
NM_194248.3:c.5899C>A MANE Select	NP_919224.1:p.Leu1967Ile
NM_194322.3:c.3829C>A	NP_919303.1:p.Leu1277Ile
NM_194323.3:c.3512+527C>A MANE Plus Clinical	NP_919304.1:n.3512+527C>A