Canonical Allele Identifier: CA346136403
Gene: OTOF HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.26706372G>T (hg19) chr2:g.26483504G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26483504G>T , CM000664.2:g.26483504G>T GRCh38
NC_000002.11:g.26706372G>T , CM000664.1:g.26706372G>T GRCh37
NC_000002.10:g.26559876G>T NCBI36
NG_009937.1:g.80195C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1350C>A MANE Select ENSP00000272371.2:p.Asp450Glu
ENST00000272371.6:c.1350C>A ENSP00000272371.2:p.Asp450Glu
ENST00000403946.7:c.1350C>A ENSP00000385255.3:p.Asp450Glu
NM_001287489.1:c.1350C>A NP_001274418.1:p.Asp450Glu
NM_194248.2:c.1350C>A NP_919224.1:p.Asp450Glu
XM_005264644.2:c.1395C>A XP_005264701.1:p.Asp465Glu
XM_011533185.1:c.1395C>A XP_011531487.1:p.Asp465Glu
XM_017005338.1:c.1350C>A XP_016860827.1:p.Asp450Glu
NM_001287489.2:c.1350C>A NP_001274418.1:p.Asp450Glu
NM_194248.3:c.1350C>A MANE Select NP_919224.1:p.Asp450Glu
Search 100 bp 5'
Search 100 bp 3'