Canonical Allele Identifier: CA902209
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 467825
ClinVar RCV Id: RCV000549727 RCV001096915 RCV001096916 RCV001273330 RCV003459236
dbSNP Id: rs62636301
ExAC: 1:68897001 C / T
gnomAD v2: 1-68897001-C-T
gnomAD v3: 1-68431318-C-T
gnomAD v4: 1-68431318-C-T
MyVariant Identifiers: chr1:g.68897001C>T (hg19) chr1:g.68431318C>T (hg38)
ERepo: CA902209/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431318C>T , CM000663.2:g.68431318C>T GRCh38
NC_000001.10:g.68897001C>T , CM000663.1:g.68897001C>T GRCh37
NC_000001.9:g.68669589C>T NCBI36
NG_008472.1:g.23642G>A
NG_008472.2:g.23642G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1302G>A MANE Select ENSP00000262340.5:p.Ala434=
ENST00000262340.5:c.1302G>A ENSP00000262340.5:p.Ala434=
NM_000329.2:c.1302G>A NP_000320.1:p.Ala434=
XM_017002027.1:c.1026G>A XP_016857516.1:p.Ala342=
NM_000329.3:c.1302G>A MANE Select NP_000320.1:p.Ala434=
Search 100 bp 5'
Search 100 bp 3'