Canonical Allele Identifier: CA2612679418

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553309-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553309C>T , CM000673.2:g.17553309C>T	GRCh38
NC_000011.9:g.17574856C>T , CM000673.1:g.17574856C>T	GRCh37
NC_000011.8:g.17531432C>T	NCBI36
NG_033191.1:g.10937C>T
NG_033191.2:g.10937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.422-56C>T	ENSP00000382323.2:n.422-56C>T
ENST00000399397.6:c.386-56C>T MANE Select	ENSP00000382329.2:n.386-56C>T
ENST00000399391.6:c.422-56C>T	ENSP00000382323.2:n.422-56C>T
ENST00000399397.5:c.386-56C>T	ENSP00000382329.2:n.386-56C>T
ENST00000428619.1:c.203-56C>T	ENSP00000399057.2:n.203-56C>T
ENST00000498332.5:n.292-56C>T
NM_001277269.1:c.422-56C>T	NP_001264198.1:n.422-56C>T
NM_001292063.1:c.386-56C>T	NP_001278992.1:n.386-56C>T
NM_001277269.2:c.422-56C>T	NP_001264198.1:n.422-56C>T
NM_001292063.2:c.386-56C>T MANE Select	NP_001278992.1:n.386-56C>T