Canonical Allele Identifier: CA1563114

Gene: OTOF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26466025C>T , CM000664.2:g.26466025C>T	GRCh38
NC_000002.11:g.26688893C>T , CM000664.1:g.26688893C>T	GRCh37
NC_000002.10:g.26542397C>T	NCBI36
NG_009937.1:g.97674G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_194248.3:c.4552G>A MANE Select	NP_919224.1:p.Ala1518Thr
ENST00000272371.7:c.4552G>A MANE Select	ENSP00000272371.2:p.Ala1518Thr
NM_194323.3:c.2251G>A MANE Plus Clinical	NP_919304.1:p.Ala751Thr
ENST00000339598.8:c.2251G>A MANE Plus Clinical	ENSP00000344521.3:p.Ala751Thr
NM_001287489.1:c.4552G>A	NP_001274418.1:p.Ala1518Thr
NM_001287489.2:c.4552G>A	NP_001274418.1:p.Ala1518Thr
NM_004802.3:c.2251G>A	NP_004793.2:p.Ala751Thr
NM_004802.4:c.2251G>A	NP_004793.2:p.Ala751Thr
NM_194248.2:c.4552G>A	NP_919224.1:p.Ala1518Thr
NM_194322.2:c.2482G>A	NP_919303.1:p.Ala828Thr
NM_194322.3:c.2482G>A	NP_919303.1:p.Ala828Thr
NM_194323.2:c.2251G>A	NP_919304.1:p.Ala751Thr
ENST00000272371.6:c.4552G>A	ENSP00000272371.2:p.Ala1518Thr
ENST00000338581.10:c.2251G>A	ENSP00000345137.6:p.Ala751Thr
ENST00000339598.7:c.2251G>A	ENSP00000344521.3:p.Ala751Thr
ENST00000402415.7:c.2482G>A	ENSP00000383906.3:p.Ala828Thr
ENST00000402415.8:c.2311G>A	ENSP00000383906.4:p.Ala771Thr
ENST00000403946.7:c.4552G>A	ENSP00000385255.3:p.Ala1518Thr
ENST00000464574.1:n.301G>A
XM_005264644.2:c.4537G>A	XP_005264701.1:p.Ala1513Thr
XM_011533185.1:c.4597G>A	XP_011531487.1:p.Ala1533Thr
XM_017005338.1:c.4492G>A	XP_016860827.1:p.Ala1498Thr