Canonical Allele Identifier: CA1173563401

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444581T= , CM000663.2:g.68444581T=	GRCh38
NC_000001.10:g.68910264T= , CM000663.1:g.68910264T=	GRCh37
NC_000001.9:g.68682852T=	NCBI36
NG_008472.1:g.10379A=
NG_008472.2:g.10379A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.445A= MANE Select	ENSP00000262340.5:p.Thr149=
ENST00000262340.5:c.445A=	ENSP00000262340.5:p.Thr149=
NM_000329.2:c.445A=	NP_000320.1:p.Thr149=
XM_017002027.1:c.169A=	XP_016857516.1:p.Thr57=
NM_000329.3:c.445A= MANE Select	NP_000320.1:p.Thr149=