Canonical Allele Identifier: CA226537
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98861
ClinVar RCV Id: RCV000085190 RCV001376504 RCV001377675
dbSNP Id: rs281865285
gnomAD v3: 1-68449904-A-G
gnomAD v4: 1-68449904-A-G
MyVariant Identifiers: chr1:g.68915587A>G (hg19) chr1:g.68449904A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68449904A>G , CM000663.2:g.68449904A>G GRCh38
NC_000001.10:g.68915587A>G , CM000663.1:g.68915587A>G GRCh37
NC_000001.9:g.68688175A>G NCBI36
NG_008472.1:g.5056T>C
NG_008472.2:g.5056T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.2T>C MANE Select ENSP00000262340.5:p.Met1Thr
ENST00000262340.5:c.2T>C ENSP00000262340.5:p.Met1Thr
NM_000329.2:c.2T>C NP_000320.1:p.Met1Thr
XM_017002027.1:c.-124T>C XP_016857516.1:n.-124T>C
NM_000329.3:c.2T>C MANE Select NP_000320.1:p.Met1Thr
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