Canonical Allele Identifier: CA1173560864

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68438281T= , CM000663.2:g.68438281T=	GRCh38
NC_000001.10:g.68903964T= , CM000663.1:g.68903964T=	GRCh37
NC_000001.9:g.68676552T=	NCBI36
NG_008472.1:g.16679A=
NG_008472.2:g.16679A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1034A= MANE Select	ENSP00000262340.5:p.Asn345=
ENST00000262340.5:c.1034A=	ENSP00000262340.5:p.Asn345=
NM_000329.2:c.1034A=	NP_000320.1:p.Asn345=
XM_017002027.1:c.758A=	XP_016857516.1:p.Asn253=
NM_000329.3:c.1034A= MANE Select	NP_000320.1:p.Asn345=