Canonical Allele Identifier: CA5905980
Community Standard Title: NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val)
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17611374C>T , CM000673.2:g.17611374C>T GRCh38
NC_000011.9:g.17632921C>T , CM000673.1:g.17632921C>T GRCh37
NC_000011.8:g.17589497C>T NCBI36
NG_033191.1:g.69002C>T
NG_033191.2:g.69002C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001292063.2:c.6074C>T MANE Select NP_001278992.1:p.Ala2025Val
ENST00000399397.6:c.6074C>T MANE Select ENSP00000382329.2:p.Ala2025Val
NM_001277269.1:c.6110C>T NP_001264198.1:p.Ala2037Val
NM_001277269.2:c.6110C>T NP_001264198.1:p.Ala2037Val
NM_001292063.1:c.6074C>T NP_001278992.1:p.Ala2025Val
ENST00000342528.2:c.3128C>T ENSP00000341666.2:p.Ala1043Val
ENST00000399391.6:c.6110C>T ENSP00000382323.2:p.Ala2037Val
ENST00000399391.7:c.6110C>T ENSP00000382323.2:p.Ala2037Val
ENST00000399397.5:c.6074C>T ENSP00000382329.2:p.Ala2025Val