Canonical Allele Identifier: CA379811370
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553415C>T , CM000673.2:g.17553415C>T GRCh38
NC_000011.9:g.17574962C>T , CM000673.1:g.17574962C>T GRCh37
NC_000011.8:g.17531538C>T NCBI36
NG_033191.1:g.11043C>T
NG_033191.2:g.11043C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.472C>T ENSP00000382323.2:p.His158Tyr
ENST00000399397.6:c.436C>T MANE Select ENSP00000382329.2:p.His146Tyr
ENST00000399391.6:c.472C>T ENSP00000382323.2:p.His158Tyr
ENST00000399397.5:c.436C>T ENSP00000382329.2:p.His146Tyr
ENST00000428619.1:c.253C>T ENSP00000399057.2:p.His85Tyr
ENST00000498332.5:n.342C>T
NM_001277269.1:c.472C>T NP_001264198.1:p.His158Tyr
NM_001292063.1:c.436C>T NP_001278992.1:p.His146Tyr
NM_001277269.2:c.472C>T NP_001264198.1:p.His158Tyr
NM_001292063.2:c.436C>T MANE Select NP_001278992.1:p.His146Tyr