Canonical Allele Identifier: CA379813051
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs1271207528

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635151C>T , CM000673.2:g.17635151C>T GRCh38
NC_000011.9:g.17656698C>T , CM000673.1:g.17656698C>T GRCh37
NC_000011.8:g.17613274C>T NCBI36
NG_033191.1:g.92779C>T
NG_033191.2:g.92779C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7693C>T ENSP00000382323.2:p.Arg2565Cys
ENST00000399397.6:c.7657C>T MANE Select ENSP00000382329.2:p.Arg2553Cys
ENST00000342528.2:c.4322-459C>T ENSP00000341666.2:n.4322-459C>T
ENST00000399391.6:c.7693C>T ENSP00000382323.2:p.Arg2565Cys
ENST00000399397.5:c.7657C>T ENSP00000382329.2:p.Arg2553Cys
NM_001277269.1:c.7693C>T NP_001264198.1:p.Arg2565Cys
NM_001292063.1:c.7657C>T NP_001278992.1:p.Arg2553Cys
NM_001277269.2:c.7693C>T NP_001264198.1:p.Arg2565Cys
NM_001292063.2:c.7657C>T MANE Select NP_001278992.1:p.Arg2553Cys