Canonical Allele Identifier: CA1562827

Gene: OTOF

Linked Data

• dbSNP Id: rs773284093
• ExAC: 2:26684675 T / G
• gnomAD v2: 2-26684675-T-G
• MyVariant Identifiers: chr2:g.26684675T>G (hg19) ; chr2:g.26461807T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26461807T>G , CM000664.2:g.26461807T>G	GRCh38
NC_000002.11:g.26684675T>G , CM000664.1:g.26684675T>G	GRCh37
NC_000002.10:g.26538179T>G	NCBI36
NG_009937.1:g.101892A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5422A>C MANE Select	ENSP00000272371.2:p.Ile1808Leu
ENST00000339598.8:c.3121A>C MANE Plus Clinical	ENSP00000344521.3:p.Ile1041Leu
ENST00000402415.8:c.3181A>C	ENSP00000383906.4:p.Ile1061Leu
ENST00000272371.6:c.5422A>C	ENSP00000272371.2:p.Ile1808Leu
ENST00000338581.10:c.3121A>C	ENSP00000345137.6:p.Ile1041Leu
ENST00000339598.7:c.3121A>C	ENSP00000344521.3:p.Ile1041Leu
ENST00000402415.7:c.3352A>C	ENSP00000383906.3:p.Ile1118Leu
ENST00000403946.7:c.5422A>C	ENSP00000385255.3:p.Ile1808Leu
NM_001287489.1:c.5422A>C	NP_001274418.1:p.Ile1808Leu
NM_004802.3:c.3121A>C	NP_004793.2:p.Ile1041Leu
NM_194248.2:c.5422A>C	NP_919224.1:p.Ile1808Leu
NM_194322.2:c.3352A>C	NP_919303.1:p.Ile1118Leu
NM_194323.2:c.3121A>C	NP_919304.1:p.Ile1041Leu
XM_005264644.2:c.5407A>C	XP_005264701.1:p.Ile1803Leu
XM_011533185.1:c.5467A>C	XP_011531487.1:p.Ile1823Leu
XM_017005338.1:c.5362A>C	XP_016860827.1:p.Ile1788Leu
NM_001287489.2:c.5422A>C	NP_001274418.1:p.Ile1808Leu
NM_004802.4:c.3121A>C	NP_004793.2:p.Ile1041Leu
NM_194248.3:c.5422A>C MANE Select	NP_919224.1:p.Ile1808Leu
NM_194322.3:c.3352A>C	NP_919303.1:p.Ile1118Leu
NM_194323.3:c.3121A>C MANE Plus Clinical	NP_919304.1:p.Ile1041Leu