Canonical Allele Identifier: CA340742454

Gene: RPE65

Linked Data

• dbSNP Id: rs1645824260
• MyVariant Identifiers: chr1:g.68896994G>T (hg19) ; chr1:g.68431311G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68431311G>T , CM000663.2:g.68431311G>T	GRCh38
NC_000001.10:g.68896994G>T , CM000663.1:g.68896994G>T	GRCh37
NC_000001.9:g.68669582G>T	NCBI36
NG_008472.1:g.23649C>A
NG_008472.2:g.23649C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1309C>A MANE Select	ENSP00000262340.5:p.Leu437Ile
ENST00000262340.5:c.1309C>A	ENSP00000262340.5:p.Leu437Ile
NM_000329.2:c.1309C>A	NP_000320.1:p.Leu437Ile
XM_017002027.1:c.1033C>A	XP_016857516.1:p.Leu345Ile
NM_000329.3:c.1309C>A MANE Select	NP_000320.1:p.Leu437Ile