Canonical Allele Identifier: CA226528
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98854
ClinVar RCV Id: RCV000085182 RCV003764790
dbSNP Id: rs61752869
gnomAD v3: 1-68446720-A-G
gnomAD v4: 1-68446720-A-G
MyVariant Identifiers: chr1:g.68912403A>G (hg19) chr1:g.68446720A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68446720A>G , CM000663.2:g.68446720A>G GRCh38
NC_000001.10:g.68912403A>G , CM000663.1:g.68912403A>G GRCh37
NC_000001.9:g.68684991A>G NCBI36
NG_008472.1:g.8240T>C
NG_008472.2:g.8240T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.235T>C MANE Select ENSP00000262340.5:p.Tyr79His
ENST00000262340.5:c.235T>C ENSP00000262340.5:p.Tyr79His
NM_000329.2:c.235T>C NP_000320.1:p.Tyr79His
XM_017002027.1:c.-31-1837T>C XP_016857516.1:n.-31-1837T>C
NM_000329.3:c.235T>C MANE Select NP_000320.1:p.Tyr79His
Search 100 bp 5'
Search 100 bp 3'