Canonical Allele Identifier: CA340524
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 6134
ClinVar RCV Id: RCV000006508
dbSNP Id: rs80356584

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26495075T>C , CM000664.2:g.26495075T>C GRCh38
NC_000002.11:g.26717943T>C , CM000664.1:g.26717943T>C GRCh37
NC_000002.10:g.26571447T>C NCBI36
NG_009937.1:g.68624A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.766-2A>G MANE Select ENSP00000272371.2:n.766-2A>G
ENST00000272371.6:c.766-2A>G ENSP00000272371.2:n.766-2A>G
ENST00000403946.7:c.766-2A>G ENSP00000385255.3:n.766-2A>G
NM_001287489.1:c.766-2A>G NP_001274418.1:n.766-2A>G
NM_194248.2:c.766-2A>G NP_919224.1:n.766-2A>G
XM_005264644.2:c.811-2A>G XP_005264701.1:n.811-2A>G
XM_011533185.1:c.811-2A>G XP_011531487.1:n.811-2A>G
XM_017005338.1:c.766-2A>G XP_016860827.1:n.766-2A>G
NM_001287489.2:c.766-2A>G NP_001274418.1:n.766-2A>G
NM_194248.3:c.766-2A>G MANE Select NP_919224.1:n.766-2A>G