Canonical Allele Identifier: CA379780983

Gene: OTOG

Linked Data

• gnomAD v4: 11-17638504-G-T
• MyVariant Identifiers: chr11:g.17660051G>T (hg19) ; chr11:g.17638504G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17638504G>T , CM000673.2:g.17638504G>T	GRCh38
NC_000011.9:g.17660051G>T , CM000673.1:g.17660051G>T	GRCh37
NC_000011.8:g.17616627G>T	NCBI36
NG_033191.1:g.96132G>T
NG_033191.2:g.96132G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7885G>T	ENSP00000382323.2:p.Val2629Leu
ENST00000399397.6:c.7849G>T MANE Select	ENSP00000382329.2:p.Val2617Leu
ENST00000342528.2:c.4477G>T	ENSP00000341666.2:p.Val1493Leu
ENST00000399391.6:c.7885G>T	ENSP00000382323.2:p.Val2629Leu
ENST00000399397.5:c.7849G>T	ENSP00000382329.2:p.Val2617Leu
NM_001277269.1:c.7885G>T	NP_001264198.1:p.Val2629Leu
NM_001292063.1:c.7849G>T	NP_001278992.1:p.Val2617Leu
NM_001277269.2:c.7885G>T	NP_001264198.1:p.Val2629Leu
NM_001292063.2:c.7849G>T MANE Select	NP_001278992.1:p.Val2617Leu