Canonical Allele Identifier: CA226545
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98866
dbSNP Id: rs61752877
gnomAD v2: 1-68910339-G-A
gnomAD v3: 1-68444656-G-A
gnomAD v4: 1-68444656-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444656G>A , CM000663.2:g.68444656G>A GRCh38
NC_000001.10:g.68910339G>A , CM000663.1:g.68910339G>A GRCh37
NC_000001.9:g.68682927G>A NCBI36
NG_008472.1:g.10304C>T
NG_008472.2:g.10304C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.370C>T MANE Select ENSP00000262340.5:p.Arg124Ter
ENST00000262340.5:c.370C>T ENSP00000262340.5:p.Arg124Ter
NM_000329.2:c.370C>T NP_000320.1:p.Arg124Ter
XM_017002027.1:c.94C>T XP_016857516.1:p.Arg32Ter
NM_000329.3:c.370C>T MANE Select NP_000320.1:p.Arg124Ter