Canonical Allele Identifier: CA226483

Gene: RPE65

Linked Data

• ClinVar Variation Id: 98825
• ClinVar RCV Id: RCV000022752 ; RCV000085149 ; RCV000505050 ; RCV000524808 ; RCV000678614 ; RCV001275342 ; RCV002498448 ; RCV003460766
• dbSNP Id: rs61751276
• ExAC: 1:68915573 C / T
• gnomAD v2: 1-68915573-C-T
• gnomAD v3: 1-68449890-C-T
• gnomAD v4: 1-68449890-C-T
• MyVariant Identifiers: chr1:g.68915573C>T (hg19) ; chr1:g.68449890C>T (hg38)
• ERepo: CA226483/MONDO:0100368/120
• PubMed: PMID:9326941 ; PMID:23891399 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68449890C>T , CM000663.2:g.68449890C>T	GRCh38
NC_000001.10:g.68915573C>T , CM000663.1:g.68915573C>T	GRCh37
NC_000001.9:g.68688161C>T	NCBI36
NG_008472.1:g.5070G>A
NG_008472.2:g.5070G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.11+5G>A MANE Select	ENSP00000262340.5:n.11+5G>A
ENST00000262340.5:c.11+5G>A	ENSP00000262340.5:n.11+5G>A
NM_000329.2:c.11+5G>A	NP_000320.1:n.11+5G>A
XM_017002027.1:c.-115+5G>A	XP_016857516.1:n.-115+5G>A
NM_000329.3:c.11+5G>A MANE Select	NP_000320.1:n.11+5G>A