Canonical Allele Identifier: CA346112472
Gene: OTOF HGNC NCBI

Linked Data

gnomAD v4: 2-26475930-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26475930T>A , CM000664.2:g.26475930T>A GRCh38
NC_000002.11:g.26698798T>A , CM000664.1:g.26698798T>A GRCh37
NC_000002.10:g.26552302T>A NCBI36
NG_009937.1:g.87769A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.2975A>T MANE Select ENSP00000272371.2:p.Gln992Leu
ENST00000339598.8:c.734A>T MANE Plus Clinical ENSP00000344521.3:p.Gln245Leu
ENST00000402415.8:c.734A>T ENSP00000383906.4:p.Gln245Leu
ENST00000272371.6:c.2975A>T ENSP00000272371.2:p.Gln992Leu
ENST00000338581.10:c.734A>T ENSP00000345137.6:p.Gln245Leu
ENST00000339598.7:c.734A>T ENSP00000344521.3:p.Gln245Leu
ENST00000402415.7:c.905A>T ENSP00000383906.3:p.Gln302Leu
ENST00000403946.7:c.2975A>T ENSP00000385255.3:p.Gln992Leu
NM_001287489.1:c.2975A>T NP_001274418.1:p.Gln992Leu
NM_004802.3:c.734A>T NP_004793.2:p.Gln245Leu
NM_194248.2:c.2975A>T NP_919224.1:p.Gln992Leu
NM_194322.2:c.905A>T NP_919303.1:p.Gln302Leu
NM_194323.2:c.734A>T NP_919304.1:p.Gln245Leu
XM_005264644.2:c.3020A>T XP_005264701.1:p.Gln1007Leu
XM_011533185.1:c.3020A>T XP_011531487.1:p.Gln1007Leu
XM_017005338.1:c.2975A>T XP_016860827.1:p.Gln992Leu
NM_001287489.2:c.2975A>T NP_001274418.1:p.Gln992Leu
NM_004802.4:c.734A>T NP_004793.2:p.Gln245Leu
NM_194248.3:c.2975A>T MANE Select NP_919224.1:p.Gln992Leu
NM_194322.3:c.905A>T NP_919303.1:p.Gln302Leu
NM_194323.3:c.734A>T MANE Plus Clinical NP_919304.1:p.Gln245Leu