Canonical Allele Identifier: CA5905342
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 517609
ClinVar RCV Id: RCV000614361 RCV001796141
dbSNP Id: rs542646349
ExAC: 11:17574744 C / T
gnomAD v2: 11-17574744-C-T
gnomAD v3: 11-17553197-C-T
gnomAD v4: 11-17553197-C-T
MyVariant Identifiers: chr11:g.17574744C>T (hg19) chr11:g.17553197C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553197C>T , CM000673.2:g.17553197C>T GRCh38
NC_000011.9:g.17574744C>T , CM000673.1:g.17574744C>T GRCh37
NC_000011.8:g.17531320C>T NCBI36
NG_033191.1:g.10825C>T
NG_033191.2:g.10825C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.407C>T ENSP00000382323.2:p.Pro136Leu
ENST00000399397.6:c.371C>T MANE Select ENSP00000382329.2:p.Pro124Leu
ENST00000399391.6:c.407C>T ENSP00000382323.2:p.Pro136Leu
ENST00000399397.5:c.371C>T ENSP00000382329.2:p.Pro124Leu
ENST00000428619.1:c.188C>T ENSP00000399057.2:p.Pro63Leu
ENST00000498332.5:n.277C>T
NM_001277269.1:c.407C>T NP_001264198.1:p.Pro136Leu
NM_001292063.1:c.371C>T NP_001278992.1:p.Pro124Leu
NM_001277269.2:c.407C>T NP_001264198.1:p.Pro136Leu
NM_001292063.2:c.371C>T MANE Select NP_001278992.1:p.Pro124Leu
Search 100 bp 5'
Search 100 bp 3'