Canonical Allele Identifier: CA597672730

Gene: OTOG

Linked Data

• dbSNP Id: rs1266939305
• gnomAD v2: 11-17634335-C-A
• gnomAD v4: 11-17612788-C-A
• MyVariant Identifiers: chr11:g.17634335C>A (hg19) ; chr11:g.17612788C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612788C>A , CM000673.2:g.17612788C>A	GRCh38
NC_000011.9:g.17634335C>A , CM000673.1:g.17634335C>A	GRCh37
NC_000011.8:g.17590911C>A	NCBI36
NG_033191.1:g.70416C>A
NG_033191.2:g.70416C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6474+23C>A	ENSP00000382323.2:n.6474+23C>A
ENST00000399397.6:c.6438+23C>A MANE Select	ENSP00000382329.2:n.6438+23C>A
ENST00000342528.2:c.3492+23C>A	ENSP00000341666.2:n.3492+23C>A
ENST00000399391.6:c.6474+23C>A	ENSP00000382323.2:n.6474+23C>A
ENST00000399397.5:c.6438+23C>A	ENSP00000382329.2:n.6438+23C>A
NM_001277269.1:c.6474+23C>A	NP_001264198.1:n.6474+23C>A
NM_001292063.1:c.6438+23C>A	NP_001278992.1:n.6438+23C>A
NM_001277269.2:c.6474+23C>A	NP_001264198.1:n.6474+23C>A
NM_001292063.2:c.6438+23C>A MANE Select	NP_001278992.1:n.6438+23C>A