Canonical Allele Identifier: CA2790596443
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553287T>A , CM000673.2:g.17553287T>A GRCh38
NC_000011.9:g.17574834T>A , CM000673.1:g.17574834T>A GRCh37
NC_000011.8:g.17531410T>A NCBI36
NG_033191.1:g.10915T>A
NG_033191.2:g.10915T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.421+76T>A ENSP00000382323.2:n.421+76T>A
ENST00000399397.6:c.385+76T>A MANE Select ENSP00000382329.2:n.385+76T>A
ENST00000399391.6:c.421+76T>A ENSP00000382323.2:n.421+76T>A
ENST00000399397.5:c.385+76T>A ENSP00000382329.2:n.385+76T>A
ENST00000428619.1:c.202+76T>A ENSP00000399057.2:n.202+76T>A
ENST00000498332.5:n.291+76T>A
NM_001277269.1:c.421+76T>A NP_001264198.1:n.421+76T>A
NM_001292063.1:c.385+76T>A NP_001278992.1:n.385+76T>A
NM_001277269.2:c.421+76T>A NP_001264198.1:n.421+76T>A
NM_001292063.2:c.385+76T>A MANE Select NP_001278992.1:n.385+76T>A