Canonical Allele Identifier: CA1955232950

Gene: OTOG

Linked Data

• dbSNP Id: rs1853584429
• gnomAD v4: 11-17612425-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612425C>T , CM000673.2:g.17612425C>T	GRCh38
NC_000011.9:g.17633972C>T , CM000673.1:g.17633972C>T	GRCh37
NC_000011.8:g.17590548C>T	NCBI36
NG_033191.1:g.70053C>T
NG_033191.2:g.70053C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6328+95C>T	ENSP00000382323.2:n.6328+95C>T
ENST00000399397.6:c.6292+95C>T MANE Select	ENSP00000382329.2:n.6292+95C>T
ENST00000342528.2:c.3346+95C>T	ENSP00000341666.2:n.3346+95C>T
ENST00000399391.6:c.6328+95C>T	ENSP00000382323.2:n.6328+95C>T
ENST00000399397.5:c.6292+95C>T	ENSP00000382329.2:n.6292+95C>T
NM_001277269.1:c.6328+95C>T	NP_001264198.1:n.6328+95C>T
NM_001292063.1:c.6292+95C>T	NP_001278992.1:n.6292+95C>T
NM_001277269.2:c.6328+95C>T	NP_001264198.1:n.6328+95C>T
NM_001292063.2:c.6292+95C>T MANE Select	NP_001278992.1:n.6292+95C>T