Canonical Allele Identifier: CA10576852
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 229089
ClinVar RCV Id: RCV000219197 RCV000959057 RCV001336337
dbSNP Id: rs545257884
gnomAD v2: 11-17574708-C-G
gnomAD v3: 11-17553161-C-G
gnomAD v4: 11-17553161-C-G
MyVariant Identifiers: chr11:g.17574708C>G (hg19) chr11:g.17553161C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553161C>G , CM000673.2:g.17553161C>G GRCh38
NC_000011.9:g.17574708C>G , CM000673.1:g.17574708C>G GRCh37
NC_000011.8:g.17531284C>G NCBI36
NG_033191.1:g.10789C>G
NG_033191.2:g.10789C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.371C>G ENSP00000382323.2:p.Ala124Gly
ENST00000399397.6:c.335C>G MANE Select ENSP00000382329.2:p.Ala112Gly
ENST00000399391.6:c.371C>G ENSP00000382323.2:p.Ala124Gly
ENST00000399397.5:c.335C>G ENSP00000382329.2:p.Ala112Gly
ENST00000428619.1:c.152C>G ENSP00000399057.2:p.Ala51Gly
ENST00000498332.5:n.241C>G
NM_001277269.1:c.371C>G NP_001264198.1:p.Ala124Gly
NM_001292063.1:c.335C>G NP_001278992.1:p.Ala112Gly
NM_001277269.2:c.371C>G NP_001264198.1:p.Ala124Gly
NM_001292063.2:c.335C>G MANE Select NP_001278992.1:p.Ala112Gly
Search 100 bp 5'
Search 100 bp 3'