Canonical Allele Identifier: CA226519

Gene: RPE65

Linked Data

• ClinVar Variation Id: 13120
• ClinVar RCV Id: RCV000013999 ; RCV000014000 ; RCV000085176 ; RCV000132583 ; RCV000816506 ; RCV001262110 ; RCV001826461 ; RCV003764565 ; RCV003887868
• dbSNP Id: rs121917745
• ExAC: 1:68895518 G / A
• gnomAD v2: 1-68895518-G-A
• gnomAD v3: 1-68429835-G-A
• gnomAD v4: 1-68429835-G-A
• MyVariant Identifiers: chr1:g.68895518G>A (hg19) ; chr1:g.68429835G>A (hg38)
• PubMed: PMID:15557452
• ERepo: CA226519/MONDO:0100368/120

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429835G>A , CM000663.2:g.68429835G>A	GRCh38
NC_000001.10:g.68895518G>A , CM000663.1:g.68895518G>A	GRCh37
NC_000001.9:g.68668106G>A	NCBI36
NG_008472.1:g.25125C>T
NG_008472.2:g.25125C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.1543C>T MANE Select	ENSP00000262340.5:p.Arg515Trp
ENST00000262340.5:c.1543C>T	ENSP00000262340.5:p.Arg515Trp
NM_000329.2:c.1543C>T	NP_000320.1:p.Arg515Trp
XM_017002027.1:c.1267C>T	XP_016857516.1:p.Arg423Trp
NM_000329.3:c.1543C>T MANE Select	NP_000320.1:p.Arg515Trp