Canonical Allele Identifier: CA142738

Gene: OTOF

Linked Data

• ClinVar Variation Id: 48168
• ClinVar RCV Id: RCV000041458 ; RCV000299695 ; RCV000424874 ; RCV003964892
• dbSNP Id: rs111033396
• ExAC: 2:26705429 T / C
• gnomAD v2: 2-26705429-T-C
• gnomAD v3: 2-26482561-T-C
• gnomAD v4: 2-26482561-T-C
• MyVariant Identifiers: chr2:g.26705429T>C (hg19) ; chr2:g.26482561T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482561T>C , CM000664.2:g.26482561T>C	GRCh38
NC_000002.11:g.26705429T>C , CM000664.1:g.26705429T>C	GRCh37
NC_000002.10:g.26558933T>C	NCBI36
NG_009937.1:g.81138A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1424A>G MANE Select	ENSP00000272371.2:p.Glu475Gly
ENST00000272371.6:c.1424A>G	ENSP00000272371.2:p.Glu475Gly
ENST00000403946.7:c.1424A>G	ENSP00000385255.3:p.Glu475Gly
NM_001287489.1:c.1424A>G	NP_001274418.1:p.Glu475Gly
NM_194248.2:c.1424A>G	NP_919224.1:p.Glu475Gly
XM_005264644.2:c.1469A>G	XP_005264701.1:p.Glu490Gly
XM_011533185.1:c.1469A>G	XP_011531487.1:p.Glu490Gly
XM_017005338.1:c.1424A>G	XP_016860827.1:p.Glu475Gly
NM_001287489.2:c.1424A>G	NP_001274418.1:p.Glu475Gly
NM_194248.3:c.1424A>G MANE Select	NP_919224.1:p.Glu475Gly