Canonical Allele Identifier: CA226472

Gene: RPE65

Linked Data

• ClinVar Variation Id: 13118
• ClinVar RCV Id: RCV000986328 ; RCV001047062 ; RCV001831568 ; RCV002496352 ; RCV003764564 ; RCV000013997 ; RCV000085141
• dbSNP Id: rs61752909
• gnomAD v3: 1-68438293-A-G
• gnomAD v4: 1-68438293-A-G
• MyVariant Identifiers: chr1:g.68903976A>G (hg19) ; chr1:g.68438293A>G (hg38)
• ERepo: CA226472/MONDO:0100368/120
• PubMed: PMID:9501220

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68438293A>G , CM000663.2:g.68438293A>G	GRCh38
NC_000001.10:g.68903976A>G , CM000663.1:g.68903976A>G	GRCh37
NC_000001.9:g.68676564A>G	NCBI36
NG_008472.1:g.16667T>C
NG_008472.2:g.16667T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1022T>C MANE Select	ENSP00000262340.5:p.Leu341Ser
ENST00000262340.5:c.1022T>C	ENSP00000262340.5:p.Leu341Ser
NM_000329.2:c.1022T>C	NP_000320.1:p.Leu341Ser
XM_017002027.1:c.746T>C	XP_016857516.1:p.Leu249Ser
NM_000329.3:c.1022T>C MANE Select	NP_000320.1:p.Leu341Ser