Canonical Allele Identifier: CA346127763

Gene: OTOF

Linked Data

• gnomAD v4: 2-26460137-G-T
• MyVariant Identifiers: chr2:g.26683005G>T (hg19) ; chr2:g.26460137G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460137G>T , CM000664.2:g.26460137G>T	GRCh38
NC_000002.11:g.26683005G>T , CM000664.1:g.26683005G>T	GRCh37
NC_000002.10:g.26536509G>T	NCBI36
NG_009937.1:g.103562C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5882C>A MANE Select	ENSP00000272371.2:p.Thr1961Lys
ENST00000339598.8:c.3512+510C>A MANE Plus Clinical	ENSP00000344521.3:n.3512+510C>A
ENST00000402415.8:c.3641C>A	ENSP00000383906.4:p.Thr1214Lys
ENST00000272371.6:c.5882C>A	ENSP00000272371.2:p.Thr1961Lys
ENST00000338581.10:c.3581C>A	ENSP00000345137.6:p.Thr1194Lys
ENST00000339598.7:c.3512+510C>A	ENSP00000344521.3:n.3512+510C>A
ENST00000402415.7:c.3812C>A	ENSP00000383906.3:p.Thr1271Lys
ENST00000403946.7:c.5813+510C>A	ENSP00000385255.3:n.5813+510C>A
NM_001287489.1:c.5813+510C>A	NP_001274418.1:n.5813+510C>A
NM_004802.3:c.3581C>A	NP_004793.2:p.Thr1194Lys
NM_194248.2:c.5882C>A	NP_919224.1:p.Thr1961Lys
NM_194322.2:c.3812C>A	NP_919303.1:p.Thr1271Lys
NM_194323.2:c.3512+510C>A	NP_919304.1:n.3512+510C>A
XM_005264644.2:c.5798+510C>A	XP_005264701.1:n.5798+510C>A
XM_011533185.1:c.5858+510C>A	XP_011531487.1:n.5858+510C>A
XM_017005338.1:c.5822C>A	XP_016860827.1:p.Thr1941Lys
NM_001287489.2:c.5813+510C>A	NP_001274418.1:n.5813+510C>A
NM_004802.4:c.3581C>A	NP_004793.2:p.Thr1194Lys
NM_194248.3:c.5882C>A MANE Select	NP_919224.1:p.Thr1961Lys
NM_194322.3:c.3812C>A	NP_919303.1:p.Thr1271Lys
NM_194323.3:c.3512+510C>A MANE Plus Clinical	NP_919304.1:n.3512+510C>A