Canonical Allele Identifier: CA16043370
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 374139
dbSNP Id: rs1057518922
gnomAD v4: 1-68431281-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431281C>T , CM000663.2:g.68431281C>T GRCh38
NC_000001.10:g.68896964C>T , CM000663.1:g.68896964C>T GRCh37
NC_000001.9:g.68669552C>T NCBI36
NG_008472.1:g.23679G>A
NG_008472.2:g.23679G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1338+1G>A MANE Select ENSP00000262340.5:n.1338+1G>A
ENST00000262340.5:c.1338+1G>A ENSP00000262340.5:n.1338+1G>A
NM_000329.2:c.1338+1G>A NP_000320.1:n.1338+1G>A
XM_017002027.1:c.1062+1G>A XP_016857516.1:n.1062+1G>A
NM_000329.3:c.1338+1G>A MANE Select NP_000320.1:n.1338+1G>A