Canonical Allele Identifier: CA226585
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98895
ClinVar RCV Id: RCV000085226 RCV002226457 RCV004527320
dbSNP Id: rs281865289
gnomAD v4: 1-68439081-C-A
MyVariant Identifiers: chr1:g.68904764C>A (hg19) chr1:g.68439081C>A (hg38)
ERepo: CA226585/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68439081C>A , CM000663.2:g.68439081C>A GRCh38
NC_000001.10:g.68904764C>A , CM000663.1:g.68904764C>A GRCh37
NC_000001.9:g.68677352C>A NCBI36
NG_008472.1:g.15879G>T
NG_008472.2:g.15879G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.859G>T MANE Select ENSP00000262340.5:p.Val287Phe
ENST00000262340.5:c.859G>T ENSP00000262340.5:p.Val287Phe
NM_000329.2:c.859G>T NP_000320.1:p.Val287Phe
XM_017002027.1:c.583G>T XP_016857516.1:p.Val195Phe
NM_000329.3:c.859G>T MANE Select NP_000320.1:p.Val287Phe
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