Canonical Allele Identifier: CA1239829559

Gene: OTOF

Linked Data

• dbSNP Id: rs1665340214
• gnomAD v4: 2-26477119-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477119G>T , CM000664.2:g.26477119G>T	GRCh38
NC_000002.11:g.26699987G>T , CM000664.1:g.26699987G>T	GRCh37
NC_000002.10:g.26553491G>T	NCBI36
NG_009937.1:g.86580C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.2523+53C>A MANE Select	ENSP00000272371.2:n.2523+53C>A
ENST00000339598.8:c.282+53C>A MANE Plus Clinical	ENSP00000344521.3:n.282+53C>A
ENST00000402415.8:c.282+53C>A	ENSP00000383906.4:n.282+53C>A
ENST00000272371.6:c.2523+53C>A	ENSP00000272371.2:n.2523+53C>A
ENST00000338581.10:c.282+53C>A	ENSP00000345137.6:n.282+53C>A
ENST00000339598.7:c.282+53C>A	ENSP00000344521.3:n.282+53C>A
ENST00000402415.7:c.453+53C>A	ENSP00000383906.3:n.453+53C>A
ENST00000403946.7:c.2523+53C>A	ENSP00000385255.3:n.2523+53C>A
NM_001287489.1:c.2523+53C>A	NP_001274418.1:n.2523+53C>A
NM_004802.3:c.282+53C>A	NP_004793.2:n.282+53C>A
NM_194248.2:c.2523+53C>A	NP_919224.1:n.2523+53C>A
NM_194322.2:c.453+53C>A	NP_919303.1:n.453+53C>A
NM_194323.2:c.282+53C>A	NP_919304.1:n.282+53C>A
XM_005264644.2:c.2568+53C>A	XP_005264701.1:n.2568+53C>A
XM_011533185.1:c.2568+53C>A	XP_011531487.1:n.2568+53C>A
XM_017005338.1:c.2523+53C>A	XP_016860827.1:n.2523+53C>A
NM_001287489.2:c.2523+53C>A	NP_001274418.1:n.2523+53C>A
NM_004802.4:c.282+53C>A	NP_004793.2:n.282+53C>A
NM_194248.3:c.2523+53C>A MANE Select	NP_919224.1:n.2523+53C>A
NM_194322.3:c.453+53C>A	NP_919303.1:n.453+53C>A
NM_194323.3:c.282+53C>A MANE Plus Clinical	NP_919304.1:n.282+53C>A