Canonical Allele Identifier: CA379791618
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17645754T>G , CM000673.2:g.17645754T>G GRCh38
NC_000011.9:g.17667301T>G , CM000673.1:g.17667301T>G GRCh37
NC_000011.8:g.17623877T>G NCBI36
NG_033191.1:g.103382T>G
NG_033191.2:g.103382T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.8588T>G ENSP00000382323.2:p.Val2863Gly
ENST00000399397.6:c.8552T>G MANE Select ENSP00000382329.2:p.Val2851Gly
ENST00000399391.6:c.8588T>G ENSP00000382323.2:p.Val2863Gly
ENST00000399397.5:c.8552T>G ENSP00000382329.2:p.Val2851Gly
NM_001277269.1:c.8588T>G NP_001264198.1:p.Val2863Gly
NM_001292063.1:c.8552T>G NP_001278992.1:p.Val2851Gly
NM_001277269.2:c.8588T>G NP_001264198.1:p.Val2863Gly
NM_001292063.2:c.8552T>G MANE Select NP_001278992.1:p.Val2851Gly