Canonical Allele Identifier: CA379811637
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553455C>G , CM000673.2:g.17553455C>G GRCh38
NC_000011.9:g.17575002C>G , CM000673.1:g.17575002C>G GRCh37
NC_000011.8:g.17531578C>G NCBI36
NG_033191.1:g.11083C>G
NG_033191.2:g.11083C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.512C>G ENSP00000382323.2:p.Ser171Cys
ENST00000399397.6:c.476C>G MANE Select ENSP00000382329.2:p.Ser159Cys
ENST00000399391.6:c.512C>G ENSP00000382323.2:p.Ser171Cys
ENST00000399397.5:c.476C>G ENSP00000382329.2:p.Ser159Cys
ENST00000498332.5:n.382C>G
NM_001277269.1:c.512C>G NP_001264198.1:p.Ser171Cys
NM_001292063.1:c.476C>G NP_001278992.1:p.Ser159Cys
NM_001277269.2:c.512C>G NP_001264198.1:p.Ser171Cys
NM_001292063.2:c.476C>G MANE Select NP_001278992.1:p.Ser159Cys