Canonical Allele Identifier: CA342577

Gene: OTOF

Linked Data

• ClinVar Variation Id: 21859
• ClinVar RCV Id: RCV000021071
• dbSNP Id: rs80356583
• MyVariant Identifiers: chr2:g.26683769C>T (hg19) ; chr2:g.26460901C>T (hg38)
• PubMed: PMID:20301429

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460901C>T , CM000664.2:g.26460901C>T	GRCh38
NC_000002.11:g.26683769C>T , CM000664.1:g.26683769C>T	GRCh37
NC_000002.10:g.26537273C>T	NCBI36
NG_009937.1:g.102798G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5663G>A MANE Select	ENSP00000272371.2:p.Gly1888Asp
ENST00000339598.8:c.3362G>A MANE Plus Clinical	ENSP00000344521.3:p.Gly1121Asp
ENST00000402415.8:c.3422G>A	ENSP00000383906.4:p.Gly1141Asp
ENST00000272371.6:c.5663G>A	ENSP00000272371.2:p.Gly1888Asp
ENST00000338581.10:c.3362G>A	ENSP00000345137.6:p.Gly1121Asp
ENST00000339598.7:c.3362G>A	ENSP00000344521.3:p.Gly1121Asp
ENST00000402415.7:c.3593G>A	ENSP00000383906.3:p.Gly1198Asp
ENST00000403946.7:c.5663G>A	ENSP00000385255.3:p.Gly1888Asp
NM_001287489.1:c.5663G>A	NP_001274418.1:p.Gly1888Asp
NM_004802.3:c.3362G>A	NP_004793.2:p.Gly1121Asp
NM_194248.2:c.5663G>A	NP_919224.1:p.Gly1888Asp
NM_194322.2:c.3593G>A	NP_919303.1:p.Gly1198Asp
NM_194323.2:c.3362G>A	NP_919304.1:p.Gly1121Asp
XM_005264644.2:c.5648G>A	XP_005264701.1:p.Gly1883Asp
XM_011533185.1:c.5708G>A	XP_011531487.1:p.Gly1903Asp
XM_017005338.1:c.5603G>A	XP_016860827.1:p.Gly1868Asp
NM_001287489.2:c.5663G>A	NP_001274418.1:p.Gly1888Asp
NM_004802.4:c.3362G>A	NP_004793.2:p.Gly1121Asp
NM_194248.3:c.5663G>A MANE Select	NP_919224.1:p.Gly1888Asp
NM_194322.3:c.3593G>A	NP_919303.1:p.Gly1198Asp
NM_194323.3:c.3362G>A MANE Plus Clinical	NP_919304.1:p.Gly1121Asp