Canonical Allele Identifier: CA346131479

Gene: OTOF

Linked Data

• MyVariant Identifiers: chr2:g.26684671G>C (hg19) ; chr2:g.26461803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26461803G>C , CM000664.2:g.26461803G>C	GRCh38
NC_000002.11:g.26684671G>C , CM000664.1:g.26684671G>C	GRCh37
NC_000002.10:g.26538175G>C	NCBI36
NG_009937.1:g.101896C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5426C>G MANE Select	ENSP00000272371.2:p.Ser1809Cys
ENST00000339598.8:c.3125C>G MANE Plus Clinical	ENSP00000344521.3:p.Ser1042Cys
ENST00000402415.8:c.3185C>G	ENSP00000383906.4:p.Ser1062Cys
ENST00000272371.6:c.5426C>G	ENSP00000272371.2:p.Ser1809Cys
ENST00000338581.10:c.3125C>G	ENSP00000345137.6:p.Ser1042Cys
ENST00000339598.7:c.3125C>G	ENSP00000344521.3:p.Ser1042Cys
ENST00000402415.7:c.3356C>G	ENSP00000383906.3:p.Ser1119Cys
ENST00000403946.7:c.5426C>G	ENSP00000385255.3:p.Ser1809Cys
NM_001287489.1:c.5426C>G	NP_001274418.1:p.Ser1809Cys
NM_004802.3:c.3125C>G	NP_004793.2:p.Ser1042Cys
NM_194248.2:c.5426C>G	NP_919224.1:p.Ser1809Cys
NM_194322.2:c.3356C>G	NP_919303.1:p.Ser1119Cys
NM_194323.2:c.3125C>G	NP_919304.1:p.Ser1042Cys
XM_005264644.2:c.5411C>G	XP_005264701.1:p.Ser1804Cys
XM_011533185.1:c.5471C>G	XP_011531487.1:p.Ser1824Cys
XM_017005338.1:c.5366C>G	XP_016860827.1:p.Ser1789Cys
NM_001287489.2:c.5426C>G	NP_001274418.1:p.Ser1809Cys
NM_004802.4:c.3125C>G	NP_004793.2:p.Ser1042Cys
NM_194248.3:c.5426C>G MANE Select	NP_919224.1:p.Ser1809Cys
NM_194322.3:c.3356C>G	NP_919303.1:p.Ser1119Cys
NM_194323.3:c.3125C>G MANE Plus Clinical	NP_919304.1:p.Ser1042Cys