Canonical Allele Identifier: CA1148471687

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444770A= , CM000663.2:g.68444770A=	GRCh38
NC_000001.10:g.68910453A= , CM000663.1:g.68910453A=	GRCh37
NC_000001.9:g.68683041A=	NCBI36
NG_008472.1:g.10190T=
NG_008472.2:g.10190T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.353+6T= MANE Select	ENSP00000262340.5:n.353+6T=
ENST00000262340.5:c.353+6T=	ENSP00000262340.5:n.353+6T=
NM_000329.2:c.353+6T=	NP_000320.1:n.353+6T=
XM_017002027.1:c.77+6T=	XP_016857516.1:n.77+6T=
NM_000329.3:c.353+6T= MANE Select	NP_000320.1:n.353+6T=