Canonical Allele Identifier: CA218490211

Gene: OTOG

Linked Data

• dbSNP Id: rs568306046
• gnomAD v2: 11-17575041-C-T
• gnomAD v4: 11-17553494-C-T
• MyVariant Identifiers: chr11:g.17575041C>T (hg19) ; chr11:g.17553494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553494C>T , CM000673.2:g.17553494C>T	GRCh38
NC_000011.9:g.17575041C>T , CM000673.1:g.17575041C>T	GRCh37
NC_000011.8:g.17531617C>T	NCBI36
NG_033191.1:g.11122C>T
NG_033191.2:g.11122C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.551C>T	ENSP00000382323.2:p.Pro184Leu
ENST00000399397.6:c.515C>T MANE Select	ENSP00000382329.2:p.Pro172Leu
ENST00000399391.6:c.551C>T	ENSP00000382323.2:p.Pro184Leu
ENST00000399397.5:c.515C>T	ENSP00000382329.2:p.Pro172Leu
ENST00000498332.5:n.421C>T
NM_001277269.1:c.551C>T	NP_001264198.1:p.Pro184Leu
NM_001292063.1:c.515C>T	NP_001278992.1:p.Pro172Leu
NM_001277269.2:c.551C>T	NP_001264198.1:p.Pro184Leu
NM_001292063.2:c.515C>T MANE Select	NP_001278992.1:p.Pro172Leu