Canonical Allele Identifier: CA379810880
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553187G>C , CM000673.2:g.17553187G>C GRCh38
NC_000011.9:g.17574734G>C , CM000673.1:g.17574734G>C GRCh37
NC_000011.8:g.17531310G>C NCBI36
NG_033191.1:g.10815G>C
NG_033191.2:g.10815G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.397G>C ENSP00000382323.2:p.Ala133Pro
ENST00000399397.6:c.361G>C MANE Select ENSP00000382329.2:p.Ala121Pro
ENST00000399391.6:c.397G>C ENSP00000382323.2:p.Ala133Pro
ENST00000399397.5:c.361G>C ENSP00000382329.2:p.Ala121Pro
ENST00000428619.1:c.178G>C ENSP00000399057.2:p.Ala60Pro
ENST00000498332.5:n.267G>C
NM_001277269.1:c.397G>C NP_001264198.1:p.Ala133Pro
NM_001292063.1:c.361G>C NP_001278992.1:p.Ala121Pro
NM_001277269.2:c.397G>C NP_001264198.1:p.Ala133Pro
NM_001292063.2:c.361G>C MANE Select NP_001278992.1:p.Ala121Pro