Canonical Allele Identifier: CA226484
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 29870
ClinVar RCV Id: RCV000022749 RCV000022750 RCV000085150 RCV000348257 RCV000787920 RCV001054423 RCV001275328
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
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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
Search 100 bp 5'
Search 100 bp 3'