Canonical Allele Identifier: CA379786746
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17642173G>A , CM000673.2:g.17642173G>A GRCh38
NC_000011.9:g.17663720G>A , CM000673.1:g.17663720G>A GRCh37
NC_000011.8:g.17620296G>A NCBI36
NG_033191.1:g.99801G>A
NG_033191.2:g.99801G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.8378G>A ENSP00000382323.2:p.Ser2793Asn
ENST00000399397.6:c.8342G>A MANE Select ENSP00000382329.2:p.Ser2781Asn
ENST00000399391.6:c.8378G>A ENSP00000382323.2:p.Ser2793Asn
ENST00000399397.5:c.8342G>A ENSP00000382329.2:p.Ser2781Asn
NM_001277269.1:c.8378G>A NP_001264198.1:p.Ser2793Asn
NM_001292063.1:c.8342G>A NP_001278992.1:p.Ser2781Asn
NM_001277269.2:c.8378G>A NP_001264198.1:p.Ser2793Asn
NM_001292063.2:c.8342G>A MANE Select NP_001278992.1:p.Ser2781Asn