Canonical Allele Identifier: CA346115500
Gene: OTOF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26476214C>A , CM000664.2:g.26476214C>A GRCh38
NC_000002.11:g.26699082C>A , CM000664.1:g.26699082C>A GRCh37
NC_000002.10:g.26552586C>A NCBI36
NG_009937.1:g.87485G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.2780G>T MANE Select ENSP00000272371.2:p.Cys927Phe
ENST00000339598.8:c.539G>T MANE Plus Clinical ENSP00000344521.3:p.Cys180Phe
ENST00000402415.8:c.539G>T ENSP00000383906.4:p.Cys180Phe
ENST00000272371.6:c.2780G>T ENSP00000272371.2:p.Cys927Phe
ENST00000338581.10:c.539G>T ENSP00000345137.6:p.Cys180Phe
ENST00000339598.7:c.539G>T ENSP00000344521.3:p.Cys180Phe
ENST00000402415.7:c.710G>T ENSP00000383906.3:p.Cys237Phe
ENST00000403946.7:c.2780G>T ENSP00000385255.3:p.Cys927Phe
NM_001287489.1:c.2780G>T NP_001274418.1:p.Cys927Phe
NM_004802.3:c.539G>T NP_004793.2:p.Cys180Phe
NM_194248.2:c.2780G>T NP_919224.1:p.Cys927Phe
NM_194322.2:c.710G>T NP_919303.1:p.Cys237Phe
NM_194323.2:c.539G>T NP_919304.1:p.Cys180Phe
XM_005264644.2:c.2825G>T XP_005264701.1:p.Cys942Phe
XM_011533185.1:c.2825G>T XP_011531487.1:p.Cys942Phe
XM_017005338.1:c.2780G>T XP_016860827.1:p.Cys927Phe
NM_001287489.2:c.2780G>T NP_001274418.1:p.Cys927Phe
NM_004802.4:c.539G>T NP_004793.2:p.Cys180Phe
NM_194248.3:c.2780G>T MANE Select NP_919224.1:p.Cys927Phe
NM_194322.3:c.710G>T NP_919303.1:p.Cys237Phe
NM_194323.3:c.539G>T MANE Plus Clinical NP_919304.1:p.Cys180Phe