Canonical Allele Identifier: CA5905362

Gene: OTOG

Linked Data

• dbSNP Id: rs745990734
• ExAC: 11:17575003 C / T
• gnomAD v2: 11-17575003-C-T
• gnomAD v3: 11-17553456-C-T
• gnomAD v4: 11-17553456-C-T
• MyVariant Identifiers: chr11:g.17575003C>T (hg19) ; chr11:g.17553456C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553456C>T , CM000673.2:g.17553456C>T	GRCh38
NC_000011.9:g.17575003C>T , CM000673.1:g.17575003C>T	GRCh37
NC_000011.8:g.17531579C>T	NCBI36
NG_033191.1:g.11084C>T
NG_033191.2:g.11084C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.513C>T	ENSP00000382323.2:p.Ser171=
ENST00000399397.6:c.477C>T MANE Select	ENSP00000382329.2:p.Ser159=
ENST00000399391.6:c.513C>T	ENSP00000382323.2:p.Ser171=
ENST00000399397.5:c.477C>T	ENSP00000382329.2:p.Ser159=
ENST00000498332.5:n.383C>T
NM_001277269.1:c.513C>T	NP_001264198.1:p.Ser171=
NM_001292063.1:c.477C>T	NP_001278992.1:p.Ser159=
NM_001277269.2:c.513C>T	NP_001264198.1:p.Ser171=
NM_001292063.2:c.477C>T MANE Select	NP_001278992.1:p.Ser159=