Canonical Allele Identifier: CA340742782
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1066954
ClinVar RCV Id: RCV001378085
dbSNP Id: rs1421696563
gnomAD v2: 1-68897153-C-T
gnomAD v4: 1-68431470-C-T
MyVariant Identifiers: chr1:g.68897153C>T (hg19) chr1:g.68431470C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431470C>T , CM000663.2:g.68431470C>T GRCh38
NC_000001.10:g.68897153C>T , CM000663.1:g.68897153C>T GRCh37
NC_000001.9:g.68669741C>T NCBI36
NG_008472.1:g.23490G>A
NG_008472.2:g.23490G>A

Transcript Alleles

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