Canonical Allele Identifier: CA902125
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 870342
ClinVar RCV Id: RCV001089889 RCV001210767 RCV001732038 RCV001828545 RCV003769012 RCV002489725
dbSNP Id: rs577335767
ExAC: 1:68895464 A / T
gnomAD v2: 1-68895464-A-T
gnomAD v3: 1-68429781-A-T
gnomAD v4: 1-68429781-A-T
MyVariant Identifiers: chr1:g.68895464A>T (hg19) chr1:g.68429781A>T (hg38)
ERepo: CA902125/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429781A>T , CM000663.2:g.68429781A>T GRCh38
NC_000001.10:g.68895464A>T , CM000663.1:g.68895464A>T GRCh37
NC_000001.9:g.68668052A>T NCBI36
NG_008472.1:g.25179T>A
NG_008472.2:g.25179T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1597T>A MANE Select ENSP00000262340.5:p.Ser533Thr
ENST00000262340.5:c.1597T>A ENSP00000262340.5:p.Ser533Thr
NM_000329.2:c.1597T>A NP_000320.1:p.Ser533Thr
XM_017002027.1:c.1321T>A XP_016857516.1:p.Ser441Thr
NM_000329.3:c.1597T>A MANE Select NP_000320.1:p.Ser533Thr
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