Canonical Allele Identifier: CA597904988

Gene: OTOG

Linked Data

• dbSNP Id: rs1469182293
• gnomAD v2: 11-17633910-C-T
• gnomAD v4: 11-17612363-C-T
• MyVariant Identifiers: chr11:g.17633910C>T (hg19) ; chr11:g.17612363C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612363C>T , CM000673.2:g.17612363C>T	GRCh38
NC_000011.9:g.17633910C>T , CM000673.1:g.17633910C>T	GRCh37
NC_000011.8:g.17590486C>T	NCBI36
NG_033191.1:g.69991C>T
NG_033191.2:g.69991C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6328+33C>T	ENSP00000382323.2:n.6328+33C>T
ENST00000399397.6:c.6292+33C>T MANE Select	ENSP00000382329.2:n.6292+33C>T
ENST00000342528.2:c.3346+33C>T	ENSP00000341666.2:n.3346+33C>T
ENST00000399391.6:c.6328+33C>T	ENSP00000382323.2:n.6328+33C>T
ENST00000399397.5:c.6292+33C>T	ENSP00000382329.2:n.6292+33C>T
NM_001277269.1:c.6328+33C>T	NP_001264198.1:n.6328+33C>T
NM_001292063.1:c.6292+33C>T	NP_001278992.1:n.6292+33C>T
NM_001277269.2:c.6328+33C>T	NP_001264198.1:n.6328+33C>T
NM_001292063.2:c.6292+33C>T MANE Select	NP_001278992.1:n.6292+33C>T