Canonical Allele Identifier: CA2658238747

Gene: OTOF

Linked Data

• gnomAD v4: 2-26482343-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482343C>A , CM000664.2:g.26482343C>A	GRCh38
NC_000002.11:g.26705211C>A , CM000664.1:g.26705211C>A	GRCh37
NC_000002.10:g.26558715C>A	NCBI36
NG_009937.1:g.81356G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.1579+63G>T MANE Select	ENSP00000272371.2:n.1579+63G>T
ENST00000272371.6:c.1579+63G>T	ENSP00000272371.2:n.1579+63G>T
ENST00000403946.7:c.1579+63G>T	ENSP00000385255.3:n.1579+63G>T
NM_001287489.1:c.1579+63G>T	NP_001274418.1:n.1579+63G>T
NM_194248.2:c.1579+63G>T	NP_919224.1:n.1579+63G>T
XM_005264644.2:c.1624+63G>T	XP_005264701.1:n.1624+63G>T
XM_011533185.1:c.1624+63G>T	XP_011531487.1:n.1624+63G>T
XM_017005338.1:c.1579+63G>T	XP_016860827.1:n.1579+63G>T
NM_001287489.2:c.1579+63G>T	NP_001274418.1:n.1579+63G>T
NM_194248.3:c.1579+63G>T MANE Select	NP_919224.1:n.1579+63G>T