Canonical Allele Identifier: CA1173560869

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68438298A= , CM000663.2:g.68438298A=	GRCh38
NC_000001.10:g.68903981A= , CM000663.1:g.68903981A=	GRCh37
NC_000001.9:g.68676569A=	NCBI36
NG_008472.1:g.16662T=
NG_008472.2:g.16662T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1017T= MANE Select	ENSP00000262340.5:p.Asn339=
ENST00000262340.5:c.1017T=	ENSP00000262340.5:p.Asn339=
NM_000329.2:c.1017T=	NP_000320.1:p.Asn339=
XM_017002027.1:c.741T=	XP_016857516.1:p.Asn247=
NM_000329.3:c.1017T= MANE Select	NP_000320.1:p.Asn339=