Canonical Allele Identifier: CA1144071542

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444644C= , CM000663.2:g.68444644C=	GRCh38
NC_000001.10:g.68910327C= , CM000663.1:g.68910327C=	GRCh37
NC_000001.9:g.68682915C=	NCBI36
NG_008472.1:g.10316G=
NG_008472.2:g.10316G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.382G= MANE Select	ENSP00000262340.5:p.Val128=
ENST00000262340.5:c.382G=	ENSP00000262340.5:p.Val128=
NM_000329.2:c.382G=	NP_000320.1:p.Val128=
XM_017002027.1:c.106G=	XP_016857516.1:p.Val36=
NM_000329.3:c.382G= MANE Select	NP_000320.1:p.Val128=