Canonical Allele Identifier: CA226545
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98866
ClinVar RCV Id: RCV000085195 RCV000538669 RCV000986332 RCV001275332 RCV002490740 RCV003242981 RCV003764794 RCV003888467
dbSNP Id: rs61752877
ExAC: 1:68910339 G / A
gnomAD v2: 1-68910339-G-A
gnomAD v3: 1-68444656-G-A
gnomAD v4: 1-68444656-G-A
MyVariant Identifiers: chr1:g.68910339G>A (hg19) chr1:g.68444656G>A (hg38)
ERepo: CA226545/MONDO:0100368/120
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'