Canonical Allele Identifier: CA2612686620

Gene: OTOG

Linked Data

• gnomAD v4: 11-17612457-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612457G>C , CM000673.2:g.17612457G>C	GRCh38
NC_000011.9:g.17634004G>C , CM000673.1:g.17634004G>C	GRCh37
NC_000011.8:g.17590580G>C	NCBI36
NG_033191.1:g.70085G>C
NG_033191.2:g.70085G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6328+127G>C	ENSP00000382323.2:n.6328+127G>C
ENST00000399397.6:c.6292+127G>C MANE Select	ENSP00000382329.2:n.6292+127G>C
ENST00000342528.2:c.3346+127G>C	ENSP00000341666.2:n.3346+127G>C
ENST00000399391.6:c.6328+127G>C	ENSP00000382323.2:n.6328+127G>C
ENST00000399397.5:c.6292+127G>C	ENSP00000382329.2:n.6292+127G>C
NM_001277269.1:c.6328+127G>C	NP_001264198.1:n.6328+127G>C
NM_001292063.1:c.6292+127G>C	NP_001278992.1:n.6292+127G>C
NM_001277269.2:c.6328+127G>C	NP_001264198.1:n.6328+127G>C
NM_001292063.2:c.6292+127G>C MANE Select	NP_001278992.1:n.6292+127G>C