Canonical Allele Identifier: CA346127615

Gene: OTOF

Linked Data

• MyVariant Identifiers: chr2:g.26682977C>A (hg19) ; chr2:g.26460109C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460109C>A , CM000664.2:g.26460109C>A	GRCh38
NC_000002.11:g.26682977C>A , CM000664.1:g.26682977C>A	GRCh37
NC_000002.10:g.26536481C>A	NCBI36
NG_009937.1:g.103590G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5910G>T MANE Select	ENSP00000272371.2:p.Leu1970Phe
ENST00000339598.8:c.3512+538G>T MANE Plus Clinical	ENSP00000344521.3:n.3512+538G>T
ENST00000402415.8:c.3669G>T	ENSP00000383906.4:p.Leu1223Phe
ENST00000272371.6:c.5910G>T	ENSP00000272371.2:p.Leu1970Phe
ENST00000338581.10:c.3609G>T	ENSP00000345137.6:p.Leu1203Phe
ENST00000339598.7:c.3512+538G>T	ENSP00000344521.3:n.3512+538G>T
ENST00000402415.7:c.3840G>T	ENSP00000383906.3:p.Leu1280Phe
ENST00000403946.7:c.5813+538G>T	ENSP00000385255.3:n.5813+538G>T
NM_001287489.1:c.5813+538G>T	NP_001274418.1:n.5813+538G>T
NM_004802.3:c.3609G>T	NP_004793.2:p.Leu1203Phe
NM_194248.2:c.5910G>T	NP_919224.1:p.Leu1970Phe
NM_194322.2:c.3840G>T	NP_919303.1:p.Leu1280Phe
NM_194323.2:c.3512+538G>T	NP_919304.1:n.3512+538G>T
XM_005264644.2:c.5798+538G>T	XP_005264701.1:n.5798+538G>T
XM_011533185.1:c.5858+538G>T	XP_011531487.1:n.5858+538G>T
XM_017005338.1:c.5850G>T	XP_016860827.1:p.Leu1950Phe
NM_001287489.2:c.5813+538G>T	NP_001274418.1:n.5813+538G>T
NM_004802.4:c.3609G>T	NP_004793.2:p.Leu1203Phe
NM_194248.3:c.5910G>T MANE Select	NP_919224.1:p.Leu1970Phe
NM_194322.3:c.3840G>T	NP_919303.1:p.Leu1280Phe
NM_194323.3:c.3512+538G>T MANE Plus Clinical	NP_919304.1:n.3512+538G>T