Canonical Allele Identifier: CA1173563465

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444768T= , CM000663.2:g.68444768T=	GRCh38
NC_000001.10:g.68910451T= , CM000663.1:g.68910451T=	GRCh37
NC_000001.9:g.68683039T=	NCBI36
NG_008472.1:g.10192A=
NG_008472.2:g.10192A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.353+8A= MANE Select	ENSP00000262340.5:n.353+8A=
ENST00000262340.5:c.353+8A=	ENSP00000262340.5:n.353+8A=
NM_000329.2:c.353+8A=	NP_000320.1:n.353+8A=
XM_017002027.1:c.77+8A=	XP_016857516.1:n.77+8A=
NM_000329.3:c.353+8A= MANE Select	NP_000320.1:n.353+8A=