Canonical Allele Identifier: CA226499
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98835
ClinVar RCV Id: RCV003764786
dbSNP Id: rs62636299
gnomAD v2: 1-68897054-C-G
gnomAD v3: 1-68431371-C-G
gnomAD v4: 1-68431371-C-G
MyVariant Identifiers: chr1:g.68897054C>G (hg19) chr1:g.68431371C>G (hg38)
ERepo: CA226499/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431371C>G , CM000663.2:g.68431371C>G GRCh38
NC_000001.10:g.68897054C>G , CM000663.1:g.68897054C>G GRCh37
NC_000001.9:g.68669642C>G NCBI36
NG_008472.1:g.23589G>C
NG_008472.2:g.23589G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1249G>C MANE Select ENSP00000262340.5:p.Glu417Gln
ENST00000262340.5:c.1249G>C ENSP00000262340.5:p.Glu417Gln
NM_000329.2:c.1249G>C NP_000320.1:p.Glu417Gln
XM_017002027.1:c.973G>C XP_016857516.1:p.Glu325Gln
NM_000329.3:c.1249G>C MANE Select NP_000320.1:p.Glu417Gln
Search 100 bp 5'
Search 100 bp 3'