Canonical Allele Identifier: CA473305607
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs2134095132
MyVariant Identifiers: chr11:g.17633843T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612296T>G , CM000673.2:g.17612296T>G GRCh38
NC_000011.9:g.17633843T>G , CM000673.1:g.17633843T>G GRCh37
NC_000011.8:g.17590419T>G NCBI36
NG_033191.1:g.69924T>G
NG_033191.2:g.69924T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6294T>G ENSP00000382323.2:p.Gly2098=
ENST00000399397.6:c.6258T>G MANE Select ENSP00000382329.2:p.Gly2086=
ENST00000342528.2:c.3312T>G ENSP00000341666.2:p.Gly1104=
ENST00000399391.6:c.6294T>G ENSP00000382323.2:p.Gly2098=
ENST00000399397.5:c.6258T>G ENSP00000382329.2:p.Gly2086=
NM_001277269.1:c.6294T>G NP_001264198.1:p.Gly2098=
NM_001292063.1:c.6258T>G NP_001278992.1:p.Gly2086=
NM_001277269.2:c.6294T>G NP_001264198.1:p.Gly2098=
NM_001292063.2:c.6258T>G MANE Select NP_001278992.1:p.Gly2086=