Canonical Allele Identifier: CA418279241

Gene: RPE65

Linked Data

• MyVariant Identifiers: chr1:g.68903987A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68438304A>T , CM000663.2:g.68438304A>T	GRCh38
NC_000001.10:g.68903987A>T , CM000663.1:g.68903987A>T	GRCh37
NC_000001.9:g.68676575A>T	NCBI36
NG_008472.1:g.16656T>A
NG_008472.2:g.16656T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.1011T>A MANE Select	ENSP00000262340.5:p.Val337=
ENST00000262340.5:c.1011T>A	ENSP00000262340.5:p.Val337=
NM_000329.2:c.1011T>A	NP_000320.1:p.Val337=
XM_017002027.1:c.735T>A	XP_016857516.1:p.Val245=
NM_000329.3:c.1011T>A MANE Select	NP_000320.1:p.Val337=