Canonical Allele Identifier: CA346137674
Gene: OTOF HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.26707353A>C (hg19) chr2:g.26484485A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26484485A>C , CM000664.2:g.26484485A>C GRCh38
NC_000002.11:g.26707353A>C , CM000664.1:g.26707353A>C GRCh37
NC_000002.10:g.26560857A>C NCBI36
NG_009937.1:g.79214T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1194T>G MANE Select ENSP00000272371.2:p.Asp398Glu
ENST00000272371.6:c.1194T>G ENSP00000272371.2:p.Asp398Glu
ENST00000403946.7:c.1194T>G ENSP00000385255.3:p.Asp398Glu
NM_001287489.1:c.1194T>G NP_001274418.1:p.Asp398Glu
NM_194248.2:c.1194T>G NP_919224.1:p.Asp398Glu
XM_005264644.2:c.1239T>G XP_005264701.1:p.Asp413Glu
XM_011533185.1:c.1239T>G XP_011531487.1:p.Asp413Glu
XM_017005338.1:c.1194T>G XP_016860827.1:p.Asp398Glu
NM_001287489.2:c.1194T>G NP_001274418.1:p.Asp398Glu
NM_194248.3:c.1194T>G MANE Select NP_919224.1:p.Asp398Glu
Search 100 bp 5'
Search 100 bp 3'