Canonical Allele Identifier: CA5905422

Gene: OTOG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17558257C>T , CM000673.2:g.17558257C>T	GRCh38
NC_000011.9:g.17579804C>T , CM000673.1:g.17579804C>T	GRCh37
NC_000011.8:g.17536380C>T	NCBI36
NG_033191.1:g.15885C>T
NG_033191.2:g.15885C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001292063.2:c.938C>T MANE Select	NP_001278992.1:p.Pro313Leu
ENST00000399397.6:c.938C>T MANE Select	ENSP00000382329.2:p.Pro313Leu
NM_001277269.1:c.974C>T	NP_001264198.1:p.Pro325Leu
NM_001277269.2:c.974C>T	NP_001264198.1:p.Pro325Leu
NM_001292063.1:c.938C>T	NP_001278992.1:p.Pro313Leu
ENST00000399391.6:c.974C>T	ENSP00000382323.2:p.Pro325Leu
ENST00000399391.7:c.974C>T	ENSP00000382323.2:p.Pro325Leu
ENST00000399397.5:c.938C>T	ENSP00000382329.2:p.Pro313Leu
ENST00000485669.1:n.405-205C>T
ENST00000498332.5:n.844C>T