Canonical Allele Identifier: CA1028608152
Gene: OTOF HGNC NCBI

Linked Data

dbSNP Id: rs568447728
gnomAD v3: 2-26477117-G-T
gnomAD v4: 2-26477117-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26477117G>T , CM000664.2:g.26477117G>T GRCh38
NC_000002.11:g.26699985G>T , CM000664.1:g.26699985G>T GRCh37
NC_000002.10:g.26553489G>T NCBI36
NG_009937.1:g.86582C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.2523+55C>A MANE Select ENSP00000272371.2:n.2523+55C>A
ENST00000339598.8:c.282+55C>A MANE Plus Clinical ENSP00000344521.3:n.282+55C>A
ENST00000402415.8:c.282+55C>A ENSP00000383906.4:n.282+55C>A
ENST00000272371.6:c.2523+55C>A ENSP00000272371.2:n.2523+55C>A
ENST00000338581.10:c.282+55C>A ENSP00000345137.6:n.282+55C>A
ENST00000339598.7:c.282+55C>A ENSP00000344521.3:n.282+55C>A
ENST00000402415.7:c.453+55C>A ENSP00000383906.3:n.453+55C>A
ENST00000403946.7:c.2523+55C>A ENSP00000385255.3:n.2523+55C>A
NM_001287489.1:c.2523+55C>A NP_001274418.1:n.2523+55C>A
NM_004802.3:c.282+55C>A NP_004793.2:n.282+55C>A
NM_194248.2:c.2523+55C>A NP_919224.1:n.2523+55C>A
NM_194322.2:c.453+55C>A NP_919303.1:n.453+55C>A
NM_194323.2:c.282+55C>A NP_919304.1:n.282+55C>A
XM_005264644.2:c.2568+55C>A XP_005264701.1:n.2568+55C>A
XM_011533185.1:c.2568+55C>A XP_011531487.1:n.2568+55C>A
XM_017005338.1:c.2523+55C>A XP_016860827.1:n.2523+55C>A
NM_001287489.2:c.2523+55C>A NP_001274418.1:n.2523+55C>A
NM_004802.4:c.282+55C>A NP_004793.2:n.282+55C>A
NM_194248.3:c.2523+55C>A MANE Select NP_919224.1:n.2523+55C>A
NM_194322.3:c.453+55C>A NP_919303.1:n.453+55C>A
NM_194323.3:c.282+55C>A MANE Plus Clinical NP_919304.1:n.282+55C>A