Canonical Allele Identifier: CA1173563415

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444621A= , CM000663.2:g.68444621A=	GRCh38
NC_000001.10:g.68910304A= , CM000663.1:g.68910304A=	GRCh37
NC_000001.9:g.68682892A=	NCBI36
NG_008472.1:g.10339T=
NG_008472.2:g.10339T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.405T= MANE Select	ENSP00000262340.5:p.Asn135=
ENST00000262340.5:c.405T=	ENSP00000262340.5:p.Asn135=
NM_000329.2:c.405T=	NP_000320.1:p.Asn135=
XM_017002027.1:c.129T=	XP_016857516.1:p.Asn43=
NM_000329.3:c.405T= MANE Select	NP_000320.1:p.Asn135=