Canonical Allele Identifier: CA379807735

Gene: OTOG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17629159G>A , CM000673.2:g.17629159G>A	GRCh38
NC_000011.9:g.17650706G>A , CM000673.1:g.17650706G>A	GRCh37
NC_000011.8:g.17607282G>A	NCBI36
NG_033191.1:g.86787G>A
NG_033191.2:g.86787G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001292063.2:c.6555G>A MANE Select	NP_001278992.1:p.Trp2185Ter
ENST00000399397.6:c.6555G>A MANE Select	ENSP00000382329.2:p.Trp2185Ter
NM_001277269.1:c.6591G>A	NP_001264198.1:p.Trp2197Ter
NM_001277269.2:c.6591G>A	NP_001264198.1:p.Trp2197Ter
NM_001292063.1:c.6555G>A	NP_001278992.1:p.Trp2185Ter
ENST00000342528.2:c.3609G>A	ENSP00000341666.2:p.Trp1203Ter
ENST00000399391.6:c.6591G>A	ENSP00000382323.2:p.Trp2197Ter
ENST00000399391.7:c.6591G>A	ENSP00000382323.2:p.Trp2197Ter
ENST00000399397.5:c.6555G>A	ENSP00000382329.2:p.Trp2185Ter