Canonical Allele Identifier: CA379803914
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612301A>C , CM000673.2:g.17612301A>C GRCh38
NC_000011.9:g.17633848A>C , CM000673.1:g.17633848A>C GRCh37
NC_000011.8:g.17590424A>C NCBI36
NG_033191.1:g.69929A>C
NG_033191.2:g.69929A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6299A>C ENSP00000382323.2:p.Asp2100Ala
ENST00000399397.6:c.6263A>C MANE Select ENSP00000382329.2:p.Asp2088Ala
ENST00000342528.2:c.3317A>C ENSP00000341666.2:p.Asp1106Ala
ENST00000399391.6:c.6299A>C ENSP00000382323.2:p.Asp2100Ala
ENST00000399397.5:c.6263A>C ENSP00000382329.2:p.Asp2088Ala
NM_001277269.1:c.6299A>C NP_001264198.1:p.Asp2100Ala
NM_001292063.1:c.6263A>C NP_001278992.1:p.Asp2088Ala
NM_001277269.2:c.6299A>C NP_001264198.1:p.Asp2100Ala
NM_001292063.2:c.6263A>C MANE Select NP_001278992.1:p.Asp2088Ala