Canonical Allele Identifier: CA379811434

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553421-G-C
• MyVariant Identifiers: chr11:g.17574968G>C (hg19) ; chr11:g.17553421G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553421G>C , CM000673.2:g.17553421G>C	GRCh38
NC_000011.9:g.17574968G>C , CM000673.1:g.17574968G>C	GRCh37
NC_000011.8:g.17531544G>C	NCBI36
NG_033191.1:g.11049G>C
NG_033191.2:g.11049G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.478G>C	ENSP00000382323.2:p.Val160Leu
ENST00000399397.6:c.442G>C MANE Select	ENSP00000382329.2:p.Val148Leu
ENST00000399391.6:c.478G>C	ENSP00000382323.2:p.Val160Leu
ENST00000399397.5:c.442G>C	ENSP00000382329.2:p.Val148Leu
ENST00000428619.1:c.259G>C	ENSP00000399057.2:p.Val87Leu
ENST00000498332.5:n.348G>C
NM_001277269.1:c.478G>C	NP_001264198.1:p.Val160Leu
NM_001292063.1:c.442G>C	NP_001278992.1:p.Val148Leu
NM_001277269.2:c.478G>C	NP_001264198.1:p.Val160Leu
NM_001292063.2:c.442G>C MANE Select	NP_001278992.1:p.Val148Leu