Canonical Allele Identifier: CA473516730
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17574913G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553366G>T , CM000673.2:g.17553366G>T GRCh38
NC_000011.9:g.17574913G>T , CM000673.1:g.17574913G>T GRCh37
NC_000011.8:g.17531489G>T NCBI36
NG_033191.1:g.10994G>T
NG_033191.2:g.10994G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.423G>T ENSP00000382323.2:p.Val141=
ENST00000399397.6:c.387G>T MANE Select ENSP00000382329.2:p.Val129=
ENST00000399391.6:c.423G>T ENSP00000382323.2:p.Val141=
ENST00000399397.5:c.387G>T ENSP00000382329.2:p.Val129=
ENST00000428619.1:c.204G>T ENSP00000399057.2:p.Val68=
ENST00000498332.5:n.293G>T
NM_001277269.1:c.423G>T NP_001264198.1:p.Val141=
NM_001292063.1:c.387G>T NP_001278992.1:p.Val129=
NM_001277269.2:c.423G>T NP_001264198.1:p.Val141=
NM_001292063.2:c.387G>T MANE Select NP_001278992.1:p.Val129=