Canonical Allele Identifier: CA218478958

Gene: OTOG

Linked Data

• dbSNP Id: rs1033434881
• gnomAD v4: 11-17612747-C-G
• MyVariant Identifiers: chr11:g.17634294C>G (hg19) ; chr11:g.17612747C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612747C>G , CM000673.2:g.17612747C>G	GRCh38
NC_000011.9:g.17634294C>G , CM000673.1:g.17634294C>G	GRCh37
NC_000011.8:g.17590870C>G	NCBI36
NG_033191.1:g.70375C>G
NG_033191.2:g.70375C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6456C>G	ENSP00000382323.2:p.Asp2152Glu
ENST00000399397.6:c.6420C>G MANE Select	ENSP00000382329.2:p.Asp2140Glu
ENST00000342528.2:c.3474C>G	ENSP00000341666.2:p.Asp1158Glu
ENST00000399391.6:c.6456C>G	ENSP00000382323.2:p.Asp2152Glu
ENST00000399397.5:c.6420C>G	ENSP00000382329.2:p.Asp2140Glu
NM_001277269.1:c.6456C>G	NP_001264198.1:p.Asp2152Glu
NM_001292063.1:c.6420C>G	NP_001278992.1:p.Asp2140Glu
NM_001277269.2:c.6456C>G	NP_001264198.1:p.Asp2152Glu
NM_001292063.2:c.6420C>G MANE Select	NP_001278992.1:p.Asp2140Glu