Canonical Allele Identifier: CA379792556
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17645849C>A , CM000673.2:g.17645849C>A GRCh38
NC_000011.9:g.17667396C>A , CM000673.1:g.17667396C>A GRCh37
NC_000011.8:g.17623972C>A NCBI36
NG_033191.1:g.103477C>A
NG_033191.2:g.103477C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.8683C>A ENSP00000382323.2:p.Gln2895Lys
ENST00000399397.6:c.8647C>A MANE Select ENSP00000382329.2:p.Gln2883Lys
ENST00000399391.6:c.8683C>A ENSP00000382323.2:p.Gln2895Lys
ENST00000399397.5:c.8647C>A ENSP00000382329.2:p.Gln2883Lys
NM_001277269.1:c.8683C>A NP_001264198.1:p.Gln2895Lys
NM_001292063.1:c.8647C>A NP_001278992.1:p.Gln2883Lys
NM_001277269.2:c.8683C>A NP_001264198.1:p.Gln2895Lys
NM_001292063.2:c.8647C>A MANE Select NP_001278992.1:p.Gln2883Lys