Canonical Allele Identifier: CA1564485
Gene: OTOF HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.26495011G>A
GRCh37 chr2:g.26717879G>A
gnomAD v2:
2:26717879 G / A
gnomAD v3:
2:26495011 G / A
gnomAD v4:
chr2-26495011-G-A
Joint Max Group AF 0.00011395 (NFE)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00011951 (NFE)
ClinVar RCV:
RCV001576508
RCV003980716
ClinVar Variation:
1208252
dbSNP:
111033447
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26495011G>A , CM000664.2:g.26495011G>A GRCh38
NC_000002.11:g.26717879G>A , CM000664.1:g.26717879G>A GRCh37
NC_000002.10:g.26571383G>A NCBI36
NG_009937.1:g.68688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.828C>T MANE Select ENSP00000272371.2:p.Cys276=
ENST00000272371.6:c.828C>T ENSP00000272371.2:p.Cys276=
ENST00000403946.7:c.828C>T ENSP00000385255.3:p.Cys276=
NM_001287489.1:c.828C>T NP_001274418.1:p.Cys276=
NM_194248.2:c.828C>T NP_919224.1:p.Cys276=
XM_005264644.2:c.873C>T XP_005264701.1:p.Cys291=
XM_011533185.1:c.873C>T XP_011531487.1:p.Cys291=
XM_017005338.1:c.828C>T XP_016860827.1:p.Cys276=
NM_001287489.2:c.828C>T NP_001274418.1:p.Cys276=
NM_194248.3:c.828C>T MANE Select NP_919224.1:p.Cys276=
Search 100 bp 5'
Search 100 bp 3'