Canonical Allele Identifier: CA2612687048
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612811C>A , CM000673.2:g.17612811C>A GRCh38
NC_000011.9:g.17634358C>A , CM000673.1:g.17634358C>A GRCh37
NC_000011.8:g.17590934C>A NCBI36
NG_033191.1:g.70439C>A
NG_033191.2:g.70439C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6474+46C>A ENSP00000382323.2:n.6474+46C>A
ENST00000399397.6:c.6438+46C>A MANE Select ENSP00000382329.2:n.6438+46C>A
ENST00000342528.2:c.3492+46C>A ENSP00000341666.2:n.3492+46C>A
ENST00000399391.6:c.6474+46C>A ENSP00000382323.2:n.6474+46C>A
ENST00000399397.5:c.6438+46C>A ENSP00000382329.2:n.6438+46C>A
NM_001277269.1:c.6474+46C>A NP_001264198.1:n.6474+46C>A
NM_001292063.1:c.6438+46C>A NP_001278992.1:n.6438+46C>A
NM_001277269.2:c.6474+46C>A NP_001264198.1:n.6474+46C>A
NM_001292063.2:c.6438+46C>A MANE Select NP_001278992.1:n.6438+46C>A