Canonical Allele Identifier: CA346132519
Gene: OTOF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26480784A>T , CM000664.2:g.26480784A>T GRCh38
NC_000002.11:g.26703652A>T , CM000664.1:g.26703652A>T GRCh37
NC_000002.10:g.26557156A>T NCBI36
NG_009937.1:g.82915T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.1803+2T>A MANE Select ENSP00000272371.2:n.1803+2T>A
ENST00000272371.6:c.1803+2T>A ENSP00000272371.2:n.1803+2T>A
ENST00000403946.7:c.1803+2T>A ENSP00000385255.3:n.1803+2T>A
NM_001287489.1:c.1803+2T>A NP_001274418.1:n.1803+2T>A
NM_194248.2:c.1803+2T>A NP_919224.1:n.1803+2T>A
XM_005264644.2:c.1848+2T>A XP_005264701.1:n.1848+2T>A
XM_011533185.1:c.1848+2T>A XP_011531487.1:n.1848+2T>A
XM_017005338.1:c.1803+2T>A XP_016860827.1:n.1803+2T>A
NM_001287489.2:c.1803+2T>A NP_001274418.1:n.1803+2T>A
NM_194248.3:c.1803+2T>A MANE Select NP_919224.1:n.1803+2T>A