Canonical Allele Identifier: CA2576699750
Gene: OTOF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26483419C>T , CM000664.2:g.26483419C>T GRCh38
NC_000002.11:g.26706287C>T , CM000664.1:g.26706287C>T GRCh37
NC_000002.10:g.26559791C>T NCBI36
NG_009937.1:g.80280G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1392+43G>A MANE Select ENSP00000272371.2:n.1392+43G>A
ENST00000272371.6:c.1392+43G>A ENSP00000272371.2:n.1392+43G>A
ENST00000403946.7:c.1392+43G>A ENSP00000385255.3:n.1392+43G>A
NM_001287489.1:c.1392+43G>A NP_001274418.1:n.1392+43G>A
NM_194248.2:c.1392+43G>A NP_919224.1:n.1392+43G>A
XM_005264644.2:c.1437+43G>A XP_005264701.1:n.1437+43G>A
XM_011533185.1:c.1437+43G>A XP_011531487.1:n.1437+43G>A
XM_017005338.1:c.1392+43G>A XP_016860827.1:n.1392+43G>A
NM_001287489.2:c.1392+43G>A NP_001274418.1:n.1392+43G>A
NM_194248.3:c.1392+43G>A MANE Select NP_919224.1:n.1392+43G>A