Canonical Allele Identifier: CA346125174

Gene: OTOF

Linked Data

• MyVariant Identifiers: chr2:g.26680963C>A (hg19) ; chr2:g.26458095C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26458095C>A , CM000664.2:g.26458095C>A	GRCh38
NC_000002.11:g.26680963C>A , CM000664.1:g.26680963C>A	GRCh37
NC_000002.10:g.26534467C>A	NCBI36
NG_009937.1:g.105604G>T
NG_042824.1:g.61184C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.*143G>T MANE Select	ENSP00000272371.2:n.*143G>T
ENST00000339598.8:c.3638G>T MANE Plus Clinical	ENSP00000344521.3:p.Gly1213Val
ENST00000402415.8:c.*143G>T	ENSP00000383906.4:n.*143G>T
ENST00000272371.6:c.*143G>T	ENSP00000272371.2:n.*143G>T
ENST00000338581.10:c.*143G>T	ENSP00000345137.6:n.*143G>T
ENST00000339598.7:c.3638G>T	ENSP00000344521.3:p.Gly1213Val
ENST00000402415.7:c.*143G>T	ENSP00000383906.3:n.*143G>T
ENST00000403946.7:c.5939G>T	ENSP00000385255.3:p.Gly1980Val
NM_001287489.1:c.5939G>T	NP_001274418.1:p.Gly1980Val
NM_004802.3:c.*143G>T	NP_004793.2:n.*143G>T
NM_194248.2:c.*143G>T	NP_919224.1:n.*143G>T
NM_194322.2:c.*143G>T	NP_919303.1:n.*143G>T
NM_194323.2:c.3638G>T	NP_919304.1:p.Gly1213Val
XM_005264644.2:c.5924G>T	XP_005264701.1:p.Gly1975Val
XM_011533185.1:c.5984G>T	XP_011531487.1:p.Gly1995Val
NM_001287489.2:c.5939G>T	NP_001274418.1:p.Gly1980Val
NM_004802.4:c.*143G>T	NP_004793.2:n.*143G>T
NM_194248.3:c.*143G>T MANE Select	NP_919224.1:n.*143G>T
NM_194322.3:c.*143G>T	NP_919303.1:n.*143G>T
NM_194323.3:c.3638G>T MANE Plus Clinical	NP_919304.1:p.Gly1213Val