Canonical Allele Identifier: CA473516791
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17575024G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553477G>C , CM000673.2:g.17553477G>C GRCh38
NC_000011.9:g.17575024G>C , CM000673.1:g.17575024G>C GRCh37
NC_000011.8:g.17531600G>C NCBI36
NG_033191.1:g.11105G>C
NG_033191.2:g.11105G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.534G>C ENSP00000382323.2:p.Leu178=
ENST00000399397.6:c.498G>C MANE Select ENSP00000382329.2:p.Leu166=
ENST00000399391.6:c.534G>C ENSP00000382323.2:p.Leu178=
ENST00000399397.5:c.498G>C ENSP00000382329.2:p.Leu166=
ENST00000498332.5:n.404G>C
NM_001277269.1:c.534G>C NP_001264198.1:p.Leu178=
NM_001292063.1:c.498G>C NP_001278992.1:p.Leu166=
NM_001277269.2:c.534G>C NP_001264198.1:p.Leu178=
NM_001292063.2:c.498G>C MANE Select NP_001278992.1:p.Leu166=