Canonical Allele Identifier: CA425206591
Gene: OTOF HGNC NCBI

Linked Data

gnomAD v4: 2-26460139-G-A
MyVariant Identifiers: chr2:g.26683007G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26460139G>A , CM000664.2:g.26460139G>A GRCh38
NC_000002.11:g.26683007G>A , CM000664.1:g.26683007G>A GRCh37
NC_000002.10:g.26536511G>A NCBI36
NG_009937.1:g.103560C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.5880C>T MANE Select ENSP00000272371.2:p.His1960=
ENST00000339598.8:c.3512+508C>T MANE Plus Clinical ENSP00000344521.3:n.3512+508C>T
ENST00000402415.8:c.3639C>T ENSP00000383906.4:p.His1213=
ENST00000272371.6:c.5880C>T ENSP00000272371.2:p.His1960=
ENST00000338581.10:c.3579C>T ENSP00000345137.6:p.His1193=
ENST00000339598.7:c.3512+508C>T ENSP00000344521.3:n.3512+508C>T
ENST00000402415.7:c.3810C>T ENSP00000383906.3:p.His1270=
ENST00000403946.7:c.5813+508C>T ENSP00000385255.3:n.5813+508C>T
NM_001287489.1:c.5813+508C>T NP_001274418.1:n.5813+508C>T
NM_004802.3:c.3579C>T NP_004793.2:p.His1193=
NM_194248.2:c.5880C>T NP_919224.1:p.His1960=
NM_194322.2:c.3810C>T NP_919303.1:p.His1270=
NM_194323.2:c.3512+508C>T NP_919304.1:n.3512+508C>T
XM_005264644.2:c.5798+508C>T XP_005264701.1:n.5798+508C>T
XM_011533185.1:c.5858+508C>T XP_011531487.1:n.5858+508C>T
XM_017005338.1:c.5820C>T XP_016860827.1:p.His1940=
NM_001287489.2:c.5813+508C>T NP_001274418.1:n.5813+508C>T
NM_004802.4:c.3579C>T NP_004793.2:p.His1193=
NM_194248.3:c.5880C>T MANE Select NP_919224.1:p.His1960=
NM_194322.3:c.3810C>T NP_919303.1:p.His1270=
NM_194323.3:c.3512+508C>T MANE Plus Clinical NP_919304.1:n.3512+508C>T