Canonical Allele Identifier: CA379781318

Gene: OTOG

Linked Data

• gnomAD v4: 11-17638532-G-T
• MyVariant Identifiers: chr11:g.17660079G>T (hg19) ; chr11:g.17638532G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17638532G>T , CM000673.2:g.17638532G>T	GRCh38
NC_000011.9:g.17660079G>T , CM000673.1:g.17660079G>T	GRCh37
NC_000011.8:g.17616655G>T	NCBI36
NG_033191.1:g.96160G>T
NG_033191.2:g.96160G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7913G>T	ENSP00000382323.2:p.Cys2638Phe
ENST00000399397.6:c.7877G>T MANE Select	ENSP00000382329.2:p.Cys2626Phe
ENST00000342528.2:c.4505G>T	ENSP00000341666.2:p.Cys1502Phe
ENST00000399391.6:c.7913G>T	ENSP00000382323.2:p.Cys2638Phe
ENST00000399397.5:c.7877G>T	ENSP00000382329.2:p.Cys2626Phe
NM_001277269.1:c.7913G>T	NP_001264198.1:p.Cys2638Phe
NM_001292063.1:c.7877G>T	NP_001278992.1:p.Cys2626Phe
NM_001277269.2:c.7913G>T	NP_001264198.1:p.Cys2638Phe
NM_001292063.2:c.7877G>T MANE Select	NP_001278992.1:p.Cys2626Phe