Canonical Allele Identifier: CA379783513

Gene: OTOG

Linked Data

• dbSNP Id: rs1853025917
• gnomAD v3: 11-17594048-G-C
• gnomAD v4: 11-17594048-G-C
• MyVariant Identifiers: chr11:g.17615595G>C (hg19) ; chr11:g.17594048G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17594048G>C , CM000673.2:g.17594048G>C	GRCh38
NC_000011.9:g.17615595G>C , CM000673.1:g.17615595G>C	GRCh37
NC_000011.8:g.17572171G>C	NCBI36
NG_033191.1:g.51676G>C
NG_033191.2:g.51676G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000399391.7:c.3326G>C	ENSP00000382323.2:p.Gly1109Ala
ENST00000399397.6:c.3290G>C MANE Select	ENSP00000382329.2:p.Gly1097Ala
ENST00000342528.2:c.371G>C	ENSP00000341666.2:p.Gly124Ala
ENST00000399391.6:c.3326G>C	ENSP00000382323.2:p.Gly1109Ala
ENST00000399397.5:c.3290G>C	ENSP00000382329.2:p.Gly1097Ala
NM_001277269.1:c.3326G>C	NP_001264198.1:p.Gly1109Ala
NM_001292063.1:c.3290G>C	NP_001278992.1:p.Gly1097Ala
NM_001277269.2:c.3326G>C	NP_001264198.1:p.Gly1109Ala
NM_001292063.2:c.3290G>C MANE Select	NP_001278992.1:p.Gly1097Ala