Canonical Allele Identifier: CA1173557433

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429840A= , CM000663.2:g.68429840A=	GRCh38
NC_000001.10:g.68895523A= , CM000663.1:g.68895523A=	GRCh37
NC_000001.9:g.68668111A=	NCBI36
NG_008472.1:g.25120T=
NG_008472.2:g.25120T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.1538T= MANE Select	ENSP00000262340.5:p.Val513=
ENST00000262340.5:c.1538T=	ENSP00000262340.5:p.Val513=
NM_000329.2:c.1538T=	NP_000320.1:p.Val513=
XM_017002027.1:c.1262T=	XP_016857516.1:p.Val421=
NM_000329.3:c.1538T= MANE Select	NP_000320.1:p.Val513=