Canonical Allele Identifier: CA346135226

Gene: OTOF

Linked Data

• dbSNP Id: rs1664690146
• gnomAD v3: 2-26465678-T-C
• gnomAD v4: 2-26465678-T-C
• MyVariant Identifiers: chr2:g.26688546T>C (hg19) ; chr2:g.26465678T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26465678T>C , CM000664.2:g.26465678T>C	GRCh38
NC_000002.11:g.26688546T>C , CM000664.1:g.26688546T>C	GRCh37
NC_000002.10:g.26542050T>C	NCBI36
NG_009937.1:g.98021A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.4793A>G MANE Select	ENSP00000272371.2:p.Tyr1598Cys
ENST00000339598.8:c.2492A>G MANE Plus Clinical	ENSP00000344521.3:p.Tyr831Cys
ENST00000402415.8:c.2552A>G	ENSP00000383906.4:p.Tyr851Cys
ENST00000272371.6:c.4793A>G	ENSP00000272371.2:p.Tyr1598Cys
ENST00000338581.10:c.2492A>G	ENSP00000345137.6:p.Tyr831Cys
ENST00000339598.7:c.2492A>G	ENSP00000344521.3:p.Tyr831Cys
ENST00000402415.7:c.2723A>G	ENSP00000383906.3:p.Tyr908Cys
ENST00000403946.7:c.4793A>G	ENSP00000385255.3:p.Tyr1598Cys
ENST00000464574.1:n.542A>G
NM_001287489.1:c.4793A>G	NP_001274418.1:p.Tyr1598Cys
NM_004802.3:c.2492A>G	NP_004793.2:p.Tyr831Cys
NM_194248.2:c.4793A>G	NP_919224.1:p.Tyr1598Cys
NM_194322.2:c.2723A>G	NP_919303.1:p.Tyr908Cys
NM_194323.2:c.2492A>G	NP_919304.1:p.Tyr831Cys
XM_005264644.2:c.4778A>G	XP_005264701.1:p.Tyr1593Cys
XM_011533185.1:c.4838A>G	XP_011531487.1:p.Tyr1613Cys
XM_017005338.1:c.4733A>G	XP_016860827.1:p.Tyr1578Cys
NM_001287489.2:c.4793A>G	NP_001274418.1:p.Tyr1598Cys
NM_004802.4:c.2492A>G	NP_004793.2:p.Tyr831Cys
NM_194248.3:c.4793A>G MANE Select	NP_919224.1:p.Tyr1598Cys
NM_194322.3:c.2723A>G	NP_919303.1:p.Tyr908Cys
NM_194323.3:c.2492A>G MANE Plus Clinical	NP_919304.1:p.Tyr831Cys