Canonical Allele Identifier: CA1144124900

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444496T= , CM000663.2:g.68444496T=	GRCh38
NC_000001.10:g.68910179T= , CM000663.1:g.68910179T=	GRCh37
NC_000001.9:g.68682767T=	NCBI36
NG_008472.1:g.10464A=
NG_008472.2:g.10464A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.495+35A= MANE Select	ENSP00000262340.5:n.495+35A=
ENST00000262340.5:c.495+35A=	ENSP00000262340.5:n.495+35A=
NM_000329.2:c.495+35A=	NP_000320.1:n.495+35A=
XM_017002027.1:c.219+35A=	XP_016857516.1:n.219+35A=
NM_000329.3:c.495+35A= MANE Select	NP_000320.1:n.495+35A=