Canonical Allele Identifier: CA1173563407

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444602C= , CM000663.2:g.68444602C=	GRCh38
NC_000001.10:g.68910285C= , CM000663.1:g.68910285C=	GRCh37
NC_000001.9:g.68682873C=	NCBI36
NG_008472.1:g.10358G=
NG_008472.2:g.10358G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.424G= MANE Select	ENSP00000262340.5:p.Asp142=
ENST00000262340.5:c.424G=	ENSP00000262340.5:p.Asp142=
NM_000329.2:c.424G=	NP_000320.1:p.Asp142=
XM_017002027.1:c.148G=	XP_016857516.1:p.Asp50=
NM_000329.3:c.424G= MANE Select	NP_000320.1:p.Asp142=