Canonical Allele Identifier: CA902243
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 298019
ClinVar RCV Id: RCV000287911 RCV000352172 RCV001196851 RCV000923552
dbSNP Id: rs548537552
ExAC: 1:68897144 A / G
gnomAD v2: 1-68897144-A-G
gnomAD v3: 1-68431461-A-G
gnomAD v4: 1-68431461-A-G
MyVariant Identifiers: chr1:g.68897144A>G (hg19) chr1:g.68431461A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431461A>G , CM000663.2:g.68431461A>G GRCh38
NC_000001.10:g.68897144A>G , CM000663.1:g.68897144A>G GRCh37
NC_000001.9:g.68669732A>G NCBI36
NG_008472.1:g.23499T>C
NG_008472.2:g.23499T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1243+10T>C MANE Select ENSP00000262340.5:n.1243+10T>C
ENST00000262340.5:c.1243+10T>C ENSP00000262340.5:n.1243+10T>C
NM_000329.2:c.1243+10T>C NP_000320.1:n.1243+10T>C
XM_017002027.1:c.967+10T>C XP_016857516.1:n.967+10T>C
NM_000329.3:c.1243+10T>C MANE Select NP_000320.1:n.1243+10T>C
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