Canonical Allele Identifier: CA379786276

Gene: OTOG

Linked Data

• gnomAD v4: 11-17642127-C-T
• MyVariant Identifiers: chr11:g.17663674C>T (hg19) ; chr11:g.17642127C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17642127C>T , CM000673.2:g.17642127C>T	GRCh38
NC_000011.9:g.17663674C>T , CM000673.1:g.17663674C>T	GRCh37
NC_000011.8:g.17620250C>T	NCBI36
NG_033191.1:g.99755C>T
NG_033191.2:g.99755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.8332C>T	ENSP00000382323.2:p.Pro2778Ser
ENST00000399397.6:c.8296C>T MANE Select	ENSP00000382329.2:p.Pro2766Ser
ENST00000399391.6:c.8332C>T	ENSP00000382323.2:p.Pro2778Ser
ENST00000399397.5:c.8296C>T	ENSP00000382329.2:p.Pro2766Ser
NM_001277269.1:c.8332C>T	NP_001264198.1:p.Pro2778Ser
NM_001292063.1:c.8296C>T	NP_001278992.1:p.Pro2766Ser
NM_001277269.2:c.8332C>T	NP_001264198.1:p.Pro2778Ser
NM_001292063.2:c.8296C>T MANE Select	NP_001278992.1:p.Pro2766Ser