Canonical Allele Identifier: CA767290747

Gene: OTOF

Linked Data

• dbSNP Id: rs778928085
• gnomAD v4: 2-26483411-T-A
• MyVariant Identifiers: chr2:g.26706279T>A (hg19) ; chr2:g.26483411T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26483411T>A , CM000664.2:g.26483411T>A	GRCh38
NC_000002.11:g.26706279T>A , CM000664.1:g.26706279T>A	GRCh37
NC_000002.10:g.26559783T>A	NCBI36
NG_009937.1:g.80288A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1392+51A>T MANE Select	ENSP00000272371.2:n.1392+51A>T
ENST00000272371.6:c.1392+51A>T	ENSP00000272371.2:n.1392+51A>T
ENST00000403946.7:c.1392+51A>T	ENSP00000385255.3:n.1392+51A>T
NM_001287489.1:c.1392+51A>T	NP_001274418.1:n.1392+51A>T
NM_194248.2:c.1392+51A>T	NP_919224.1:n.1392+51A>T
XM_005264644.2:c.1437+51A>T	XP_005264701.1:n.1437+51A>T
XM_011533185.1:c.1437+51A>T	XP_011531487.1:n.1437+51A>T
XM_017005338.1:c.1392+51A>T	XP_016860827.1:n.1392+51A>T
NM_001287489.2:c.1392+51A>T	NP_001274418.1:n.1392+51A>T
NM_194248.3:c.1392+51A>T MANE Select	NP_919224.1:n.1392+51A>T