Canonical Allele Identifier: CA1173563385

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444550G= , CM000663.2:g.68444550G=	GRCh38
NC_000001.10:g.68910233G= , CM000663.1:g.68910233G=	GRCh37
NC_000001.9:g.68682821G=	NCBI36
NG_008472.1:g.10410C=
NG_008472.2:g.10410C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.476C= MANE Select	ENSP00000262340.5:p.Thr159=
ENST00000262340.5:c.476C=	ENSP00000262340.5:p.Thr159=
NM_000329.2:c.476C=	NP_000320.1:p.Thr159=
XM_017002027.1:c.200C=	XP_016857516.1:p.Thr67=
NM_000329.3:c.476C= MANE Select	NP_000320.1:p.Thr159=