Canonical Allele Identifier: CA473305722

Gene: OTOG

Linked Data

• dbSNP Id: rs1422798008
• MyVariant Identifiers: chr11:g.17634190C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612643C>T , CM000673.2:g.17612643C>T	GRCh38
NC_000011.9:g.17634190C>T , CM000673.1:g.17634190C>T	GRCh37
NC_000011.8:g.17590766C>T	NCBI36
NG_033191.1:g.70271C>T
NG_033191.2:g.70271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6352C>T	ENSP00000382323.2:p.Leu2118=
ENST00000399397.6:c.6316C>T MANE Select	ENSP00000382329.2:p.Leu2106=
ENST00000342528.2:c.3370C>T	ENSP00000341666.2:p.Leu1124=
ENST00000399391.6:c.6352C>T	ENSP00000382323.2:p.Leu2118=
ENST00000399397.5:c.6316C>T	ENSP00000382329.2:p.Leu2106=
NM_001277269.1:c.6352C>T	NP_001264198.1:p.Leu2118=
NM_001292063.1:c.6316C>T	NP_001278992.1:p.Leu2106=
NM_001277269.2:c.6352C>T	NP_001264198.1:p.Leu2118=
NM_001292063.2:c.6316C>T MANE Select	NP_001278992.1:p.Leu2106=