Canonical Allele Identifier: CA425359343

Gene: OTOF

Linked Data

• dbSNP Id: rs1426193970
• gnomAD v2: 2-26684673-G-A
• gnomAD v4: 2-26461805-G-A
• MyVariant Identifiers: chr2:g.26684673G>A (hg19) ; chr2:g.26461805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26461805G>A , CM000664.2:g.26461805G>A	GRCh38
NC_000002.11:g.26684673G>A , CM000664.1:g.26684673G>A	GRCh37
NC_000002.10:g.26538177G>A	NCBI36
NG_009937.1:g.101894C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5424C>T MANE Select	ENSP00000272371.2:p.Ile1808=
ENST00000339598.8:c.3123C>T MANE Plus Clinical	ENSP00000344521.3:p.Ile1041=
ENST00000402415.8:c.3183C>T	ENSP00000383906.4:p.Ile1061=
ENST00000272371.6:c.5424C>T	ENSP00000272371.2:p.Ile1808=
ENST00000338581.10:c.3123C>T	ENSP00000345137.6:p.Ile1041=
ENST00000339598.7:c.3123C>T	ENSP00000344521.3:p.Ile1041=
ENST00000402415.7:c.3354C>T	ENSP00000383906.3:p.Ile1118=
ENST00000403946.7:c.5424C>T	ENSP00000385255.3:p.Ile1808=
NM_001287489.1:c.5424C>T	NP_001274418.1:p.Ile1808=
NM_004802.3:c.3123C>T	NP_004793.2:p.Ile1041=
NM_194248.2:c.5424C>T	NP_919224.1:p.Ile1808=
NM_194322.2:c.3354C>T	NP_919303.1:p.Ile1118=
NM_194323.2:c.3123C>T	NP_919304.1:p.Ile1041=
XM_005264644.2:c.5409C>T	XP_005264701.1:p.Ile1803=
XM_011533185.1:c.5469C>T	XP_011531487.1:p.Ile1823=
XM_017005338.1:c.5364C>T	XP_016860827.1:p.Ile1788=
NM_001287489.2:c.5424C>T	NP_001274418.1:p.Ile1808=
NM_004802.4:c.3123C>T	NP_004793.2:p.Ile1041=
NM_194248.3:c.5424C>T MANE Select	NP_919224.1:p.Ile1808=
NM_194322.3:c.3354C>T	NP_919303.1:p.Ile1118=
NM_194323.3:c.3123C>T MANE Plus Clinical	NP_919304.1:p.Ile1041=