Canonical Allele Identifier: CA226517
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98848
dbSNP Id: rs62653015
gnomAD v2: 1-68895610-C-T
gnomAD v4: 1-68429927-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429927C>T , CM000663.2:g.68429927C>T GRCh38
NC_000001.10:g.68895610C>T , CM000663.1:g.68895610C>T GRCh37
NC_000001.9:g.68668198C>T NCBI36
NG_008472.1:g.25033G>A
NG_008472.2:g.25033G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451G>A MANE Select ENSP00000262340.5:p.Gly484Asp
ENST00000262340.5:c.1451G>A ENSP00000262340.5:p.Gly484Asp
NM_000329.2:c.1451G>A NP_000320.1:p.Gly484Asp
XM_017002027.1:c.1175G>A XP_016857516.1:p.Gly392Asp
NM_000329.3:c.1451G>A MANE Select NP_000320.1:p.Gly484Asp