Canonical Allele Identifier: CA379813090
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs1854234380

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635170G>C , CM000673.2:g.17635170G>C GRCh38
NC_000011.9:g.17656717G>C , CM000673.1:g.17656717G>C GRCh37
NC_000011.8:g.17613293G>C NCBI36
NG_033191.1:g.92798G>C
NG_033191.2:g.92798G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7712G>C ENSP00000382323.2:p.Cys2571Ser
ENST00000399397.6:c.7676G>C MANE Select ENSP00000382329.2:p.Cys2559Ser
ENST00000342528.2:c.4322-440G>C ENSP00000341666.2:n.4322-440G>C
ENST00000399391.6:c.7712G>C ENSP00000382323.2:p.Cys2571Ser
ENST00000399397.5:c.7676G>C ENSP00000382329.2:p.Cys2559Ser
NM_001277269.1:c.7712G>C NP_001264198.1:p.Cys2571Ser
NM_001292063.1:c.7676G>C NP_001278992.1:p.Cys2559Ser
NM_001277269.2:c.7712G>C NP_001264198.1:p.Cys2571Ser
NM_001292063.2:c.7676G>C MANE Select NP_001278992.1:p.Cys2559Ser