Canonical Allele Identifier: CA5410760

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13122417G>A , CM000672.2:g.13122417G>A	GRCh38
NC_000010.10:g.13164417G>A , CM000672.1:g.13164417G>A	GRCh37
NC_000010.9:g.13204423G>A	NCBI36
NG_012876.1:g.27336G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001008212.2:c.812G>A MANE Select	NP_001008213.1:p.Arg271His
ENST00000378747.8:c.812G>A MANE Select	ENSP00000368021.3:p.Arg271His
NM_001008211.1:c.812G>A	NP_001008212.1:p.Arg271His
NM_001008212.1:c.812G>A	NP_001008213.1:p.Arg271His
NM_001008213.1:c.812G>A	NP_001008214.1:p.Arg271His
NM_021980.4:c.812G>A	NP_068815.2:p.Arg271His
ENST00000263036.9:c.812G>A	ENSP00000263036.3:p.Arg271His
ENST00000378747.7:c.812G>A	ENSP00000368021.3:p.Arg271His
ENST00000378748.7:c.812G>A	ENSP00000368022.3:p.Arg271His
ENST00000378752.7:c.794G>A	ENSP00000368027.3:p.Arg265His
ENST00000378757.6:c.812G>A	ENSP00000368032.2:p.Arg271His
ENST00000378764.6:c.794G>A	ENSP00000368040.1:p.Arg265His
ENST00000424614.1:c.259G>A
XM_005252336.2:c.794G>A	XP_005252393.2:p.Arg265His
XM_005252337.3:c.794G>A	XP_005252394.2:p.Arg265His
XM_005252338.2:c.641G>A	XP_005252395.2:p.Arg214His