Canonical Allele Identifier: CA346137167

Gene: OTOF

Linked Data

• dbSNP Id: rs1320406513
• gnomAD v2: 2-26690235-T-C
• gnomAD v4: 2-26467367-T-C
• MyVariant Identifiers: chr2:g.26690235T>C (hg19) ; chr2:g.26467367T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26467367T>C , CM000664.2:g.26467367T>C	GRCh38
NC_000002.11:g.26690235T>C , CM000664.1:g.26690235T>C	GRCh37
NC_000002.10:g.26543739T>C	NCBI36
NG_009937.1:g.96332A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4225A>G MANE Select	ENSP00000272371.2:p.Lys1409Glu
ENST00000339598.8:c.1924A>G MANE Plus Clinical	ENSP00000344521.3:p.Lys642Glu
ENST00000402415.8:c.1984A>G	ENSP00000383906.4:p.Lys662Glu
ENST00000272371.6:c.4225A>G	ENSP00000272371.2:p.Lys1409Glu
ENST00000338581.10:c.1924A>G	ENSP00000345137.6:p.Lys642Glu
ENST00000339598.7:c.1924A>G	ENSP00000344521.3:p.Lys642Glu
ENST00000402415.7:c.2155A>G	ENSP00000383906.3:p.Lys719Glu
ENST00000403946.7:c.4225A>G	ENSP00000385255.3:p.Lys1409Glu
NM_001287489.1:c.4225A>G	NP_001274418.1:p.Lys1409Glu
NM_004802.3:c.1924A>G	NP_004793.2:p.Lys642Glu
NM_194248.2:c.4225A>G	NP_919224.1:p.Lys1409Glu
NM_194322.2:c.2155A>G	NP_919303.1:p.Lys719Glu
NM_194323.2:c.1924A>G	NP_919304.1:p.Lys642Glu
XM_005264644.2:c.4210A>G	XP_005264701.1:p.Lys1404Glu
XM_011533185.1:c.4270A>G	XP_011531487.1:p.Lys1424Glu
XM_017005338.1:c.4165A>G	XP_016860827.1:p.Lys1389Glu
NM_001287489.2:c.4225A>G	NP_001274418.1:p.Lys1409Glu
NM_004802.4:c.1924A>G	NP_004793.2:p.Lys642Glu
NM_194248.3:c.4225A>G MANE Select	NP_919224.1:p.Lys1409Glu
NM_194322.3:c.2155A>G	NP_919303.1:p.Lys719Glu
NM_194323.3:c.1924A>G MANE Plus Clinical	NP_919304.1:p.Lys642Glu