Canonical Allele Identifier: CA379804532

Gene: OTOG

Linked Data

• dbSNP Id: rs1853593337
• gnomAD v4: 11-17612734-T-C
• MyVariant Identifiers: chr11:g.17634281T>C (hg19) ; chr11:g.17612734T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612734T>C , CM000673.2:g.17612734T>C	GRCh38
NC_000011.9:g.17634281T>C , CM000673.1:g.17634281T>C	GRCh37
NC_000011.8:g.17590857T>C	NCBI36
NG_033191.1:g.70362T>C
NG_033191.2:g.70362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6443T>C	ENSP00000382323.2:p.Val2148Ala
ENST00000399397.6:c.6407T>C MANE Select	ENSP00000382329.2:p.Val2136Ala
ENST00000342528.2:c.3461T>C	ENSP00000341666.2:p.Val1154Ala
ENST00000399391.6:c.6443T>C	ENSP00000382323.2:p.Val2148Ala
ENST00000399397.5:c.6407T>C	ENSP00000382329.2:p.Val2136Ala
NM_001277269.1:c.6443T>C	NP_001264198.1:p.Val2148Ala
NM_001292063.1:c.6407T>C	NP_001278992.1:p.Val2136Ala
NM_001277269.2:c.6443T>C	NP_001264198.1:p.Val2148Ala
NM_001292063.2:c.6407T>C MANE Select	NP_001278992.1:p.Val2136Ala