Canonical Allele Identifier: CA1173557993

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68431299G= , CM000663.2:g.68431299G=	GRCh38
NC_000001.10:g.68896982G= , CM000663.1:g.68896982G=	GRCh37
NC_000001.9:g.68669570G=	NCBI36
NG_008472.1:g.23661C=
NG_008472.2:g.23661C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1321C= MANE Select	ENSP00000262340.5:p.His441=
ENST00000262340.5:c.1321C=	ENSP00000262340.5:p.His441=
NM_000329.2:c.1321C=	NP_000320.1:p.His441=
XM_017002027.1:c.1045C=	XP_016857516.1:p.His349=
NM_000329.3:c.1321C= MANE Select	NP_000320.1:p.His441=