Canonical Allele Identifier: CA346124048

Gene: OTOF

Linked Data

• dbSNP Id: rs1665387198
• gnomAD v3: 2-26477727-T-C
• gnomAD v4: 2-26477727-T-C
• MyVariant Identifiers: chr2:g.26700595T>C (hg19) ; chr2:g.26477727T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477727T>C , CM000664.2:g.26477727T>C	GRCh38
NC_000002.11:g.26700595T>C , CM000664.1:g.26700595T>C	GRCh37
NC_000002.10:g.26554099T>C	NCBI36
NG_009937.1:g.85972A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2237A>G MANE Select	ENSP00000272371.2:p.Gln746Arg
ENST00000339598.8:c.-5A>G MANE Plus Clinical	ENSP00000344521.3:n.-5A>G
ENST00000402415.8:c.-5A>G	ENSP00000383906.4:n.-5A>G
ENST00000272371.6:c.2237A>G	ENSP00000272371.2:p.Gln746Arg
ENST00000338581.10:c.-5A>G	ENSP00000345137.6:n.-5A>G
ENST00000339598.7:c.-5A>G	ENSP00000344521.3:n.-5A>G
ENST00000402415.7:c.167A>G	ENSP00000383906.3:p.Gln56Arg
ENST00000403946.7:c.2237A>G	ENSP00000385255.3:p.Gln746Arg
NM_001287489.1:c.2237A>G	NP_001274418.1:p.Gln746Arg
NM_004802.3:c.-5A>G	NP_004793.2:n.-5A>G
NM_194248.2:c.2237A>G	NP_919224.1:p.Gln746Arg
NM_194322.2:c.167A>G	NP_919303.1:p.Gln56Arg
NM_194323.2:c.-5A>G	NP_919304.1:n.-5A>G
XM_005264644.2:c.2282A>G	XP_005264701.1:p.Gln761Arg
XM_011533185.1:c.2282A>G	XP_011531487.1:p.Gln761Arg
XM_017005338.1:c.2237A>G	XP_016860827.1:p.Gln746Arg
NM_001287489.2:c.2237A>G	NP_001274418.1:p.Gln746Arg
NM_004802.4:c.-5A>G	NP_004793.2:n.-5A>G
NM_194248.3:c.2237A>G MANE Select	NP_919224.1:p.Gln746Arg
NM_194322.3:c.167A>G	NP_919303.1:p.Gln56Arg
NM_194323.3:c.-5A>G MANE Plus Clinical	NP_919304.1:n.-5A>G