Canonical Allele Identifier: CA261250
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 40177
ClinVar RCV Id: RCV000033199
dbSNP Id: rs397515435
gnomAD v2: 2-26703836-C-T
gnomAD v4: 2-26480968-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26480968C>T , CM000664.2:g.26480968C>T GRCh38
NC_000002.11:g.26703836C>T , CM000664.1:g.26703836C>T GRCh37
NC_000002.10:g.26557340C>T NCBI36
NG_009937.1:g.82731G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1621G>A MANE Select ENSP00000272371.2:p.Gly541Ser
ENST00000272371.6:c.1621G>A ENSP00000272371.2:p.Gly541Ser
ENST00000403946.7:c.1621G>A ENSP00000385255.3:p.Gly541Ser
NM_001287489.1:c.1621G>A NP_001274418.1:p.Gly541Ser
NM_194248.2:c.1621G>A NP_919224.1:p.Gly541Ser
XM_005264644.2:c.1666G>A XP_005264701.1:p.Gly556Ser
XM_011533185.1:c.1666G>A XP_011531487.1:p.Gly556Ser
XM_017005338.1:c.1621G>A XP_016860827.1:p.Gly541Ser
NM_001287489.2:c.1621G>A NP_001274418.1:p.Gly541Ser
NM_194248.3:c.1621G>A MANE Select NP_919224.1:p.Gly541Ser