Canonical Allele Identifier: CA379804486
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612722A>G , CM000673.2:g.17612722A>G GRCh38
NC_000011.9:g.17634269A>G , CM000673.1:g.17634269A>G GRCh37
NC_000011.8:g.17590845A>G NCBI36
NG_033191.1:g.70350A>G
NG_033191.2:g.70350A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6431A>G ENSP00000382323.2:p.Glu2144Gly
ENST00000399397.6:c.6395A>G MANE Select ENSP00000382329.2:p.Glu2132Gly
ENST00000342528.2:c.3449A>G ENSP00000341666.2:p.Glu1150Gly
ENST00000399391.6:c.6431A>G ENSP00000382323.2:p.Glu2144Gly
ENST00000399397.5:c.6395A>G ENSP00000382329.2:p.Glu2132Gly
NM_001277269.1:c.6431A>G NP_001264198.1:p.Glu2144Gly
NM_001292063.1:c.6395A>G NP_001278992.1:p.Glu2132Gly
NM_001277269.2:c.6431A>G NP_001264198.1:p.Glu2144Gly
NM_001292063.2:c.6395A>G MANE Select NP_001278992.1:p.Glu2132Gly