Canonical Allele Identifier: CA218490299

Gene: OTOG

Linked Data

• dbSNP Id: rs942225655
• gnomAD v4: 11-17553612-C-T
• MyVariant Identifiers: chr11:g.17575159C>T (hg19) ; chr11:g.17553612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553612C>T , CM000673.2:g.17553612C>T	GRCh38
NC_000011.9:g.17575159C>T , CM000673.1:g.17575159C>T	GRCh37
NC_000011.8:g.17531735C>T	NCBI36
NG_033191.1:g.11240C>T
NG_033191.2:g.11240C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.576+93C>T	ENSP00000382323.2:n.576+93C>T
ENST00000399397.6:c.540+93C>T MANE Select	ENSP00000382329.2:n.540+93C>T
ENST00000399391.6:c.576+93C>T	ENSP00000382323.2:n.576+93C>T
ENST00000399397.5:c.540+93C>T	ENSP00000382329.2:n.540+93C>T
ENST00000498332.5:n.446+93C>T
NM_001277269.1:c.576+93C>T	NP_001264198.1:n.576+93C>T
NM_001292063.1:c.540+93C>T	NP_001278992.1:n.540+93C>T
NM_001277269.2:c.576+93C>T	NP_001264198.1:n.576+93C>T
NM_001292063.2:c.540+93C>T MANE Select	NP_001278992.1:n.540+93C>T