Canonical Allele Identifier: CA226531
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 13115
ClinVar RCV Id: RCV000013994 RCV000085184 RCV000527143 RCV000787698 RCV001250682 RCV001257818 RCV001073556 RCV001275337 RCV001095690 RCV001813981
dbSNP Id: rs61752871
ExAC: 1:68910541 G / A
gnomAD v2: 1-68910541-G-A
gnomAD v3: 1-68444858-G-A
gnomAD v4: 1-68444858-G-A
MyVariant Identifiers: chr1:g.68910541G>A (hg19) chr1:g.68444858G>A (hg38)
PubMed: PMID:9501220
ERepo: CA226531/MONDO:0100368/120
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444858G>A , CM000663.2:g.68444858G>A GRCh38
NC_000001.10:g.68910541G>A , CM000663.1:g.68910541G>A GRCh37
NC_000001.9:g.68683129G>A NCBI36
NG_008472.1:g.10102C>T
NG_008472.2:g.10102C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.271C>T MANE Select ENSP00000262340.5:p.Arg91Trp
ENST00000262340.5:c.271C>T ENSP00000262340.5:p.Arg91Trp
NM_000329.2:c.271C>T NP_000320.1:p.Arg91Trp
XM_017002027.1:c.-6C>T XP_016857516.1:n.-6C>T
NM_000329.3:c.271C>T MANE Select NP_000320.1:p.Arg91Trp
Search 100 bp 5'
Search 100 bp 3'