Canonical Allele Identifier: CA1562816

Gene: OTOF

Linked Data

• dbSNP Id: rs753045052
• ExAC: 2:26684626 A / T
• gnomAD v2: 2-26684626-A-T
• gnomAD v4: 2-26461758-A-T
• MyVariant Identifiers: chr2:g.26684626A>T (hg19) ; chr2:g.26461758A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26461758A>T , CM000664.2:g.26461758A>T	GRCh38
NC_000002.11:g.26684626A>T , CM000664.1:g.26684626A>T	GRCh37
NC_000002.10:g.26538130A>T	NCBI36
NG_009937.1:g.101941T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5471T>A MANE Select	ENSP00000272371.2:p.Ile1824Asn
ENST00000339598.8:c.3170T>A MANE Plus Clinical	ENSP00000344521.3:p.Ile1057Asn
ENST00000402415.8:c.3230T>A	ENSP00000383906.4:p.Ile1077Asn
ENST00000272371.6:c.5471T>A	ENSP00000272371.2:p.Ile1824Asn
ENST00000338581.10:c.3170T>A	ENSP00000345137.6:p.Ile1057Asn
ENST00000339598.7:c.3170T>A	ENSP00000344521.3:p.Ile1057Asn
ENST00000402415.7:c.3401T>A	ENSP00000383906.3:p.Ile1134Asn
ENST00000403946.7:c.5471T>A	ENSP00000385255.3:p.Ile1824Asn
NM_001287489.1:c.5471T>A	NP_001274418.1:p.Ile1824Asn
NM_004802.3:c.3170T>A	NP_004793.2:p.Ile1057Asn
NM_194248.2:c.5471T>A	NP_919224.1:p.Ile1824Asn
NM_194322.2:c.3401T>A	NP_919303.1:p.Ile1134Asn
NM_194323.2:c.3170T>A	NP_919304.1:p.Ile1057Asn
XM_005264644.2:c.5456T>A	XP_005264701.1:p.Ile1819Asn
XM_011533185.1:c.5516T>A	XP_011531487.1:p.Ile1839Asn
XM_017005338.1:c.5411T>A	XP_016860827.1:p.Ile1804Asn
NM_001287489.2:c.5471T>A	NP_001274418.1:p.Ile1824Asn
NM_004802.4:c.3170T>A	NP_004793.2:p.Ile1057Asn
NM_194248.3:c.5471T>A MANE Select	NP_919224.1:p.Ile1824Asn
NM_194322.3:c.3401T>A	NP_919303.1:p.Ile1134Asn
NM_194323.3:c.3170T>A MANE Plus Clinical	NP_919304.1:p.Ile1057Asn