Canonical Allele Identifier: CA902256

Gene: RPE65

Linked Data

• ClinVar Variation Id: 298020
• ClinVar RCV Id: RCV000312204 ; RCV000403263 ; RCV000940201
• dbSNP Id: rs139640666
• ExAC: 1:68897203 G / A
• gnomAD v2: 1-68897203-G-A
• gnomAD v3: 1-68431520-G-A
• gnomAD v4: 1-68431520-G-A
• COSMIC: COSM296193
• MyVariant Identifiers: chr1:g.68897203G>A (hg19) ; chr1:g.68431520G>A (hg38)
• ERepo: CA902256/MONDO:0100368/120

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68431520G>A , CM000663.2:g.68431520G>A	GRCh38
NC_000001.10:g.68897203G>A , CM000663.1:g.68897203G>A	GRCh37
NC_000001.9:g.68669791G>A	NCBI36
NG_008472.1:g.23440C>T
NG_008472.2:g.23440C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1194C>T MANE Select	ENSP00000262340.5:p.Asp398=
ENST00000262340.5:c.1194C>T	ENSP00000262340.5:p.Asp398=
NM_000329.2:c.1194C>T	NP_000320.1:p.Asp398=
XM_017002027.1:c.918C>T	XP_016857516.1:p.Asp306=
NM_000329.3:c.1194C>T MANE Select	NP_000320.1:p.Asp398=