Canonical Allele Identifier: CA226550
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98868
dbSNP Id: rs61752880
gnomAD v4: 1-68444596-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444596A>C , CM000663.2:g.68444596A>C GRCh38
NC_000001.10:g.68910279A>C , CM000663.1:g.68910279A>C GRCh37
NC_000001.9:g.68682867A>C NCBI36
NG_008472.1:g.10364T>G
NG_008472.2:g.10364T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.430T>G MANE Select ENSP00000262340.5:p.Tyr144Asp
ENST00000262340.5:c.430T>G ENSP00000262340.5:p.Tyr144Asp
NM_000329.2:c.430T>G NP_000320.1:p.Tyr144Asp
XM_017002027.1:c.154T>G XP_016857516.1:p.Tyr52Asp
NM_000329.3:c.430T>G MANE Select NP_000320.1:p.Tyr144Asp