Canonical Allele Identifier: CA531396081

Gene: OTOF

Linked Data

• dbSNP Id: rs1156738043
• gnomAD v2: 2-26705506-A-T
• gnomAD v4: 2-26482638-A-T
• MyVariant Identifiers: chr2:g.26705506A>T (hg19) ; chr2:g.26482638A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482638A>T , CM000664.2:g.26482638A>T	GRCh38
NC_000002.11:g.26705506A>T , CM000664.1:g.26705506A>T	GRCh37
NC_000002.10:g.26559010A>T	NCBI36
NG_009937.1:g.81061T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1393-46T>A MANE Select	ENSP00000272371.2:n.1393-46T>A
ENST00000272371.6:c.1393-46T>A	ENSP00000272371.2:n.1393-46T>A
ENST00000403946.7:c.1393-46T>A	ENSP00000385255.3:n.1393-46T>A
NM_001287489.1:c.1393-46T>A	NP_001274418.1:n.1393-46T>A
NM_194248.2:c.1393-46T>A	NP_919224.1:n.1393-46T>A
XM_005264644.2:c.1438-46T>A	XP_005264701.1:n.1438-46T>A
XM_011533185.1:c.1438-46T>A	XP_011531487.1:n.1438-46T>A
XM_017005338.1:c.1393-46T>A	XP_016860827.1:n.1393-46T>A
NM_001287489.2:c.1393-46T>A	NP_001274418.1:n.1393-46T>A
NM_194248.3:c.1393-46T>A MANE Select	NP_919224.1:n.1393-46T>A