Canonical Allele Identifier: CA340744551
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1468758
ClinVar RCV Id: RCV001993735 RCV003471214
dbSNP Id: rs1645879495
gnomAD v4: 1-68438941-C-T
MyVariant Identifiers: chr1:g.68904624C>T (hg19) chr1:g.68438941C>T (hg38)
ERepo: CA340744551/MONDO:0100368/120
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438941C>T , CM000663.2:g.68438941C>T GRCh38
NC_000001.10:g.68904624C>T , CM000663.1:g.68904624C>T GRCh37
NC_000001.9:g.68677212C>T NCBI36
NG_008472.1:g.16019G>A
NG_008472.2:g.16019G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.998+1G>A MANE Select ENSP00000262340.5:n.998+1G>A
ENST00000262340.5:c.998+1G>A ENSP00000262340.5:n.998+1G>A
NM_000329.2:c.998+1G>A NP_000320.1:n.998+1G>A
XM_017002027.1:c.722+1G>A XP_016857516.1:n.722+1G>A
NM_000329.3:c.998+1G>A MANE Select NP_000320.1:n.998+1G>A
Search 100 bp 5'
Search 100 bp 3'