Canonical Allele Identifier: CA226513
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98845
ClinVar RCV Id: RCV000085172 RCV001376503 RCV001250694 RCV002513922
dbSNP Id: rs62637006
gnomAD v4: 1-68431131-C-A
MyVariant Identifiers: chr1:g.68896814C>A (hg19) chr1:g.68431131C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431131C>A , CM000663.2:g.68431131C>A GRCh38
NC_000001.10:g.68896814C>A , CM000663.1:g.68896814C>A GRCh37
NC_000001.9:g.68669402C>A NCBI36
NG_008472.1:g.23829G>T
NG_008472.2:g.23829G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1384G>T MANE Select ENSP00000262340.5:p.Glu462Ter
ENST00000262340.5:c.1384G>T ENSP00000262340.5:p.Glu462Ter
NM_000329.2:c.1384G>T NP_000320.1:p.Glu462Ter
XM_017002027.1:c.1108G>T XP_016857516.1:p.Glu370Ter
NM_000329.3:c.1384G>T MANE Select NP_000320.1:p.Glu462Ter
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