Canonical Allele Identifier: CA262047

Gene: OTOF

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26461897C>A , CM000664.2:g.26461897C>A	GRCh38
NC_000002.11:g.26684765C>A , CM000664.1:g.26684765C>A	GRCh37
NC_000002.10:g.26538269C>A	NCBI36
NG_009937.1:g.101802G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.5332G>T MANE Select	ENSP00000272371.2:p.Val1778Phe
ENST00000339598.8:c.3031G>T MANE Plus Clinical	ENSP00000344521.3:p.Val1011Phe
ENST00000402415.8:c.3091G>T	ENSP00000383906.4:p.Val1031Phe
ENST00000272371.6:c.5332G>T	ENSP00000272371.2:p.Val1778Phe
ENST00000338581.10:c.3031G>T	ENSP00000345137.6:p.Val1011Phe
ENST00000339598.7:c.3031G>T	ENSP00000344521.3:p.Val1011Phe
ENST00000402415.7:c.3262G>T	ENSP00000383906.3:p.Val1088Phe
ENST00000403946.7:c.5332G>T	ENSP00000385255.3:p.Val1778Phe
NM_001287489.1:c.5332G>T	NP_001274418.1:p.Val1778Phe
NM_004802.3:c.3031G>T	NP_004793.2:p.Val1011Phe
NM_194248.2:c.5332G>T	NP_919224.1:p.Val1778Phe
NM_194322.2:c.3262G>T	NP_919303.1:p.Val1088Phe
NM_194323.2:c.3031G>T	NP_919304.1:p.Val1011Phe
XM_005264644.2:c.5317G>T	XP_005264701.1:p.Val1773Phe
XM_011533185.1:c.5377G>T	XP_011531487.1:p.Val1793Phe
XM_017005338.1:c.5272G>T	XP_016860827.1:p.Val1758Phe
NM_001287489.2:c.5332G>T	NP_001274418.1:p.Val1778Phe
NM_004802.4:c.3031G>T	NP_004793.2:p.Val1011Phe
NM_194248.3:c.5332G>T MANE Select	NP_919224.1:p.Val1778Phe
NM_194322.3:c.3262G>T	NP_919303.1:p.Val1088Phe
NM_194323.3:c.3031G>T MANE Plus Clinical	NP_919304.1:p.Val1011Phe