Canonical Allele Identifier: CA379811663
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553461A>T , CM000673.2:g.17553461A>T GRCh38
NC_000011.9:g.17575008A>T , CM000673.1:g.17575008A>T GRCh37
NC_000011.8:g.17531584A>T NCBI36
NG_033191.1:g.11089A>T
NG_033191.2:g.11089A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.518A>T ENSP00000382323.2:p.Lys173Met
ENST00000399397.6:c.482A>T MANE Select ENSP00000382329.2:p.Lys161Met
ENST00000399391.6:c.518A>T ENSP00000382323.2:p.Lys173Met
ENST00000399397.5:c.482A>T ENSP00000382329.2:p.Lys161Met
ENST00000498332.5:n.388A>T
NM_001277269.1:c.518A>T NP_001264198.1:p.Lys173Met
NM_001292063.1:c.482A>T NP_001278992.1:p.Lys161Met
NM_001277269.2:c.518A>T NP_001264198.1:p.Lys173Met
NM_001292063.2:c.482A>T MANE Select NP_001278992.1:p.Lys161Met