Canonical Allele Identifier: CA2570501007
Gene: OTOF HGNC NCBI

Linked Data

gnomAD v4: 2-26460225-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26460225G>T , CM000664.2:g.26460225G>T GRCh38
NC_000002.11:g.26683093G>T , CM000664.1:g.26683093G>T GRCh37
NC_000002.10:g.26536597G>T NCBI36
NG_009937.1:g.103474C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.5814-20C>A MANE Select ENSP00000272371.2:n.5814-20C>A
ENST00000339598.8:c.3512+422C>A MANE Plus Clinical ENSP00000344521.3:n.3512+422C>A
ENST00000402415.8:c.3573-20C>A ENSP00000383906.4:n.3573-20C>A
ENST00000272371.6:c.5814-20C>A ENSP00000272371.2:n.5814-20C>A
ENST00000338581.10:c.3513-20C>A ENSP00000345137.6:n.3513-20C>A
ENST00000339598.7:c.3512+422C>A ENSP00000344521.3:n.3512+422C>A
ENST00000402415.7:c.3744-20C>A ENSP00000383906.3:n.3744-20C>A
ENST00000403946.7:c.5813+422C>A ENSP00000385255.3:n.5813+422C>A
NM_001287489.1:c.5813+422C>A NP_001274418.1:n.5813+422C>A
NM_004802.3:c.3513-20C>A NP_004793.2:n.3513-20C>A
NM_194248.2:c.5814-20C>A NP_919224.1:n.5814-20C>A
NM_194322.2:c.3744-20C>A NP_919303.1:n.3744-20C>A
NM_194323.2:c.3512+422C>A NP_919304.1:n.3512+422C>A
XM_005264644.2:c.5798+422C>A XP_005264701.1:n.5798+422C>A
XM_011533185.1:c.5858+422C>A XP_011531487.1:n.5858+422C>A
XM_017005338.1:c.5754-20C>A XP_016860827.1:n.5754-20C>A
NM_001287489.2:c.5813+422C>A NP_001274418.1:n.5813+422C>A
NM_004802.4:c.3513-20C>A NP_004793.2:n.3513-20C>A
NM_194248.3:c.5814-20C>A MANE Select NP_919224.1:n.5814-20C>A
NM_194322.3:c.3744-20C>A NP_919303.1:n.3744-20C>A
NM_194323.3:c.3512+422C>A MANE Plus Clinical NP_919304.1:n.3512+422C>A