Canonical Allele Identifier: CA473305712
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17634183C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612636C>T , CM000673.2:g.17612636C>T GRCh38
NC_000011.9:g.17634183C>T , CM000673.1:g.17634183C>T GRCh37
NC_000011.8:g.17590759C>T NCBI36
NG_033191.1:g.70264C>T
NG_033191.2:g.70264C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6345C>T ENSP00000382323.2:p.Phe2115=
ENST00000399397.6:c.6309C>T MANE Select ENSP00000382329.2:p.Phe2103=
ENST00000342528.2:c.3363C>T ENSP00000341666.2:p.Phe1121=
ENST00000399391.6:c.6345C>T ENSP00000382323.2:p.Phe2115=
ENST00000399397.5:c.6309C>T ENSP00000382329.2:p.Phe2103=
NM_001277269.1:c.6345C>T NP_001264198.1:p.Phe2115=
NM_001292063.1:c.6309C>T NP_001278992.1:p.Phe2103=
NM_001277269.2:c.6345C>T NP_001264198.1:p.Phe2115=
NM_001292063.2:c.6309C>T MANE Select NP_001278992.1:p.Phe2103=