Canonical Allele Identifier: CA346136686
Gene: OTOF HGNC NCBI

Linked Data

gnomAD v4: 2-26483562-C-A
MyVariant Identifiers: chr2:g.26706430C>A (hg19) chr2:g.26483562C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26483562C>A , CM000664.2:g.26483562C>A GRCh38
NC_000002.11:g.26706430C>A , CM000664.1:g.26706430C>A GRCh37
NC_000002.10:g.26559934C>A NCBI36
NG_009937.1:g.80137G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1292G>T MANE Select ENSP00000272371.2:p.Arg431Leu
ENST00000272371.6:c.1292G>T ENSP00000272371.2:p.Arg431Leu
ENST00000403946.7:c.1292G>T ENSP00000385255.3:p.Arg431Leu
NM_001287489.1:c.1292G>T NP_001274418.1:p.Arg431Leu
NM_194248.2:c.1292G>T NP_919224.1:p.Arg431Leu
XM_005264644.2:c.1337G>T XP_005264701.1:p.Arg446Leu
XM_011533185.1:c.1337G>T XP_011531487.1:p.Arg446Leu
XM_017005338.1:c.1292G>T XP_016860827.1:p.Arg431Leu
NM_001287489.2:c.1292G>T NP_001274418.1:p.Arg431Leu
NM_194248.3:c.1292G>T MANE Select NP_919224.1:p.Arg431Leu
Search 100 bp 5'
Search 100 bp 3'