Canonical Allele Identifier: CA226484

Gene: RPE65

Linked Data

• ClinVar Variation Id: 29870
• ClinVar RCV Id: RCV000022749 ; RCV000022750 ; RCV000085150 ; RCV000348257 ; RCV000787920 ; RCV001054423 ; RCV001275328 ; RCV003764626
• dbSNP Id: rs62653011
• ExAC: 1:68903896 A / G
• gnomAD v2: 1-68903896-A-G
• gnomAD v3: 1-68438213-A-G
• gnomAD v4: 1-68438213-A-G
• MyVariant Identifiers: chr1:g.68903896A>G (hg19) ; chr1:g.68438213A>G (hg38)
• PubMed: PMID:10937591 ; PMID:11786058 ; PMID:12960219 ; PMID:13616783 ; PMID:16754667 ; PMID:19753312 ; PMID:24849605 ; PMID:25257057 ; PMID:26626312
• ERepo: CA226484/MONDO:0100368/120

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68438213A>G , CM000663.2:g.68438213A>G	GRCh38
NC_000001.10:g.68903896A>G , CM000663.1:g.68903896A>G	GRCh37
NC_000001.9:g.68676484A>G	NCBI36
NG_008472.1:g.16747T>C
NG_008472.2:g.16747T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1102T>C MANE Select	ENSP00000262340.5:p.Tyr368His
ENST00000262340.5:c.1102T>C	ENSP00000262340.5:p.Tyr368His
NM_000329.2:c.1102T>C	NP_000320.1:p.Tyr368His
XM_017002027.1:c.826T>C	XP_016857516.1:p.Tyr276His
NM_000329.3:c.1102T>C MANE Select	NP_000320.1:p.Tyr368His