Canonical Allele Identifier: CA2658232747
Gene: OTOF HGNC NCBI

Linked Data

gnomAD v4: 2-26460216-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26460216A>G , CM000664.2:g.26460216A>G GRCh38
NC_000002.11:g.26683084A>G , CM000664.1:g.26683084A>G GRCh37
NC_000002.10:g.26536588A>G NCBI36
NG_009937.1:g.103483T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.5814-11T>C MANE Select ENSP00000272371.2:n.5814-11T>C
ENST00000339598.8:c.3512+431T>C MANE Plus Clinical ENSP00000344521.3:n.3512+431T>C
ENST00000402415.8:c.3573-11T>C ENSP00000383906.4:n.3573-11T>C
ENST00000272371.6:c.5814-11T>C ENSP00000272371.2:n.5814-11T>C
ENST00000338581.10:c.3513-11T>C ENSP00000345137.6:n.3513-11T>C
ENST00000339598.7:c.3512+431T>C ENSP00000344521.3:n.3512+431T>C
ENST00000402415.7:c.3744-11T>C ENSP00000383906.3:n.3744-11T>C
ENST00000403946.7:c.5813+431T>C ENSP00000385255.3:n.5813+431T>C
NM_001287489.1:c.5813+431T>C NP_001274418.1:n.5813+431T>C
NM_004802.3:c.3513-11T>C NP_004793.2:n.3513-11T>C
NM_194248.2:c.5814-11T>C NP_919224.1:n.5814-11T>C
NM_194322.2:c.3744-11T>C NP_919303.1:n.3744-11T>C
NM_194323.2:c.3512+431T>C NP_919304.1:n.3512+431T>C
XM_005264644.2:c.5798+431T>C XP_005264701.1:n.5798+431T>C
XM_011533185.1:c.5858+431T>C XP_011531487.1:n.5858+431T>C
XM_017005338.1:c.5754-11T>C XP_016860827.1:n.5754-11T>C
NM_001287489.2:c.5813+431T>C NP_001274418.1:n.5813+431T>C
NM_004802.4:c.3513-11T>C NP_004793.2:n.3513-11T>C
NM_194248.3:c.5814-11T>C MANE Select NP_919224.1:n.5814-11T>C
NM_194322.3:c.3744-11T>C NP_919303.1:n.3744-11T>C
NM_194323.3:c.3512+431T>C MANE Plus Clinical NP_919304.1:n.3512+431T>C