Canonical Allele Identifier: CA425359322

Gene: OTOF

Linked Data

• dbSNP Id: rs1343003822
• gnomAD v2: 2-26684634-C-T
• gnomAD v4: 2-26461766-C-T
• MyVariant Identifiers: chr2:g.26684634C>T (hg19) ; chr2:g.26461766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26461766C>T , CM000664.2:g.26461766C>T	GRCh38
NC_000002.11:g.26684634C>T , CM000664.1:g.26684634C>T	GRCh37
NC_000002.10:g.26538138C>T	NCBI36
NG_009937.1:g.101933G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5463G>A MANE Select	ENSP00000272371.2:p.Glu1821=
ENST00000339598.8:c.3162G>A MANE Plus Clinical	ENSP00000344521.3:p.Glu1054=
ENST00000402415.8:c.3222G>A	ENSP00000383906.4:p.Glu1074=
ENST00000272371.6:c.5463G>A	ENSP00000272371.2:p.Glu1821=
ENST00000338581.10:c.3162G>A	ENSP00000345137.6:p.Glu1054=
ENST00000339598.7:c.3162G>A	ENSP00000344521.3:p.Glu1054=
ENST00000402415.7:c.3393G>A	ENSP00000383906.3:p.Glu1131=
ENST00000403946.7:c.5463G>A	ENSP00000385255.3:p.Glu1821=
NM_001287489.1:c.5463G>A	NP_001274418.1:p.Glu1821=
NM_004802.3:c.3162G>A	NP_004793.2:p.Glu1054=
NM_194248.2:c.5463G>A	NP_919224.1:p.Glu1821=
NM_194322.2:c.3393G>A	NP_919303.1:p.Glu1131=
NM_194323.2:c.3162G>A	NP_919304.1:p.Glu1054=
XM_005264644.2:c.5448G>A	XP_005264701.1:p.Glu1816=
XM_011533185.1:c.5508G>A	XP_011531487.1:p.Glu1836=
XM_017005338.1:c.5403G>A	XP_016860827.1:p.Glu1801=
NM_001287489.2:c.5463G>A	NP_001274418.1:p.Glu1821=
NM_004802.4:c.3162G>A	NP_004793.2:p.Glu1054=
NM_194248.3:c.5463G>A MANE Select	NP_919224.1:p.Glu1821=
NM_194322.3:c.3393G>A	NP_919303.1:p.Glu1131=
NM_194323.3:c.3162G>A MANE Plus Clinical	NP_919304.1:p.Glu1054=