Canonical Allele Identifier: CA1239830544
Gene: OTOF HGNC NCBI

Linked Data

dbSNP Id: rs1665627546
gnomAD v4: 2-26483718-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26483718C>A , CM000664.2:g.26483718C>A GRCh38
NC_000002.11:g.26706586C>A , CM000664.1:g.26706586C>A GRCh37
NC_000002.10:g.26560090C>A NCBI36
NG_009937.1:g.79981G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1206-70G>T MANE Select ENSP00000272371.2:n.1206-70G>T
ENST00000272371.6:c.1206-70G>T ENSP00000272371.2:n.1206-70G>T
ENST00000403946.7:c.1206-70G>T ENSP00000385255.3:n.1206-70G>T
NM_001287489.1:c.1206-70G>T NP_001274418.1:n.1206-70G>T
NM_194248.2:c.1206-70G>T NP_919224.1:n.1206-70G>T
XM_005264644.2:c.1251-70G>T XP_005264701.1:n.1251-70G>T
XM_011533185.1:c.1251-70G>T XP_011531487.1:n.1251-70G>T
XM_017005338.1:c.1206-70G>T XP_016860827.1:n.1206-70G>T
NM_001287489.2:c.1206-70G>T NP_001274418.1:n.1206-70G>T
NM_194248.3:c.1206-70G>T MANE Select NP_919224.1:n.1206-70G>T