Canonical Allele Identifier: CA226519
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 13120
dbSNP Id: rs121917745
gnomAD v2: 1-68895518-G-A
gnomAD v3: 1-68429835-G-A
gnomAD v4: 1-68429835-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429835G>A , CM000663.2:g.68429835G>A GRCh38
NC_000001.10:g.68895518G>A , CM000663.1:g.68895518G>A GRCh37
NC_000001.9:g.68668106G>A NCBI36
NG_008472.1:g.25125C>T
NG_008472.2:g.25125C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1543C>T MANE Select ENSP00000262340.5:p.Arg515Trp
ENST00000262340.5:c.1543C>T ENSP00000262340.5:p.Arg515Trp
NM_000329.2:c.1543C>T NP_000320.1:p.Arg515Trp
XM_017002027.1:c.1267C>T XP_016857516.1:p.Arg423Trp
NM_000329.3:c.1543C>T MANE Select NP_000320.1:p.Arg515Trp