Canonical Allele Identifier: CA218495160

Gene: OTOG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17558393C>G , CM000673.2:g.17558393C>G	GRCh38
NC_000011.9:g.17579940C>G , CM000673.1:g.17579940C>G	GRCh37
NC_000011.8:g.17536516C>G	NCBI36
NG_033191.1:g.16021C>G
NG_033191.2:g.16021C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001292063.2:c.996+78C>G MANE Select	NP_001278992.1:n.996+78C>G
ENST00000399397.6:c.996+78C>G MANE Select	ENSP00000382329.2:n.996+78C>G
NM_001277269.1:c.1032+78C>G	NP_001264198.1:n.1032+78C>G
NM_001277269.2:c.1032+78C>G	NP_001264198.1:n.1032+78C>G
NM_001292063.1:c.996+78C>G	NP_001278992.1:n.996+78C>G
ENST00000399391.6:c.1032+78C>G	ENSP00000382323.2:n.1032+78C>G
ENST00000399391.7:c.1032+78C>G	ENSP00000382323.2:n.1032+78C>G
ENST00000399397.5:c.996+78C>G	ENSP00000382329.2:n.996+78C>G
ENST00000485669.1:n.405-69C>G
ENST00000498332.5:n.902+78C>G