Canonical Allele Identifier: CA44401577
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 2576779
ClinVar RCV Id: RCV003323084
dbSNP Id: rs373654311
gnomAD v2: 2-26705348-G-A
gnomAD v3: 2-26482480-G-A
gnomAD v4: 2-26482480-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26482480G>A , CM000664.2:g.26482480G>A GRCh38
NC_000002.11:g.26705348G>A , CM000664.1:g.26705348G>A GRCh37
NC_000002.10:g.26558852G>A NCBI36
NG_009937.1:g.81219C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1505C>T MANE Select ENSP00000272371.2:p.Ser502Leu
ENST00000272371.6:c.1505C>T ENSP00000272371.2:p.Ser502Leu
ENST00000403946.7:c.1505C>T ENSP00000385255.3:p.Ser502Leu
NM_001287489.1:c.1505C>T NP_001274418.1:p.Ser502Leu
NM_194248.2:c.1505C>T NP_919224.1:p.Ser502Leu
XM_005264644.2:c.1550C>T XP_005264701.1:p.Ser517Leu
XM_011533185.1:c.1550C>T XP_011531487.1:p.Ser517Leu
XM_017005338.1:c.1505C>T XP_016860827.1:p.Ser502Leu
NM_001287489.2:c.1505C>T NP_001274418.1:p.Ser502Leu
NM_194248.3:c.1505C>T MANE Select NP_919224.1:p.Ser502Leu