Canonical Allele Identifier: CA1564292

Gene: OTOF

Linked Data

• dbSNP Id: rs779931677
• ExAC: 2:26706288 C / T
• gnomAD v2: 2-26706288-C-T
• gnomAD v3: 2-26483420-C-T
• gnomAD v4: 2-26483420-C-T
• MyVariant Identifiers: chr2:g.26706288C>T (hg19) ; chr2:g.26483420C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26483420C>T , CM000664.2:g.26483420C>T	GRCh38
NC_000002.11:g.26706288C>T , CM000664.1:g.26706288C>T	GRCh37
NC_000002.10:g.26559792C>T	NCBI36
NG_009937.1:g.80279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1392+42G>A MANE Select	ENSP00000272371.2:n.1392+42G>A
ENST00000272371.6:c.1392+42G>A	ENSP00000272371.2:n.1392+42G>A
ENST00000403946.7:c.1392+42G>A	ENSP00000385255.3:n.1392+42G>A
NM_001287489.1:c.1392+42G>A	NP_001274418.1:n.1392+42G>A
NM_194248.2:c.1392+42G>A	NP_919224.1:n.1392+42G>A
XM_005264644.2:c.1437+42G>A	XP_005264701.1:n.1437+42G>A
XM_011533185.1:c.1437+42G>A	XP_011531487.1:n.1437+42G>A
XM_017005338.1:c.1392+42G>A	XP_016860827.1:n.1392+42G>A
NM_001287489.2:c.1392+42G>A	NP_001274418.1:n.1392+42G>A
NM_194248.3:c.1392+42G>A MANE Select	NP_919224.1:n.1392+42G>A