Canonical Allele Identifier: CA1173563422

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444649A= , CM000663.2:g.68444649A=	GRCh38
NC_000001.10:g.68910332A= , CM000663.1:g.68910332A=	GRCh37
NC_000001.9:g.68682920A=	NCBI36
NG_008472.1:g.10311T=
NG_008472.2:g.10311T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.377T= MANE Select	ENSP00000262340.5:p.Val126=
ENST00000262340.5:c.377T=	ENSP00000262340.5:p.Val126=
NM_000329.2:c.377T=	NP_000320.1:p.Val126=
XM_017002027.1:c.101T=	XP_016857516.1:p.Val34=
NM_000329.3:c.377T= MANE Select	NP_000320.1:p.Val126=