Canonical Allele Identifier: CA1173563472

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444776C= , CM000663.2:g.68444776C=	GRCh38
NC_000001.10:g.68910459C= , CM000663.1:g.68910459C=	GRCh37
NC_000001.9:g.68683047C=	NCBI36
NG_008472.1:g.10184G=
NG_008472.2:g.10184G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.353G= MANE Select	ENSP00000262340.5:p.Arg118=
ENST00000262340.5:c.353G=	ENSP00000262340.5:p.Arg118=
NM_000329.2:c.353G=	NP_000320.1:p.Arg118=
XM_017002027.1:c.77G=	XP_016857516.1:p.Arg26=
NM_000329.3:c.353G= MANE Select	NP_000320.1:p.Arg118=