Canonical Allele Identifier: CA1148259220

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444626C= , CM000663.2:g.68444626C=	GRCh38
NC_000001.10:g.68910309C= , CM000663.1:g.68910309C=	GRCh37
NC_000001.9:g.68682897C=	NCBI36
NG_008472.1:g.10334G=
NG_008472.2:g.10334G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.400G= MANE Select	ENSP00000262340.5:p.Val134=
ENST00000262340.5:c.400G=	ENSP00000262340.5:p.Val134=
NM_000329.2:c.400G=	NP_000320.1:p.Val134=
XM_017002027.1:c.124G=	XP_016857516.1:p.Val42=
NM_000329.3:c.400G= MANE Select	NP_000320.1:p.Val134=