Canonical Allele Identifier: CA226539
Gene: RPE65 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.68444825C>T
GRCh37 chr1:g.68910508C>T
Revel Score:
ENST00000262340 (MANE Select) 0.891
ClinVar RCV:
RCV000085191
ClinVar Variation:
98862
dbSNP:
62642584
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444825C>T , CM000663.2:g.68444825C>T GRCh38
NC_000001.10:g.68910508C>T , CM000663.1:g.68910508C>T GRCh37
NC_000001.9:g.68683096C>T NCBI36
NG_008472.1:g.10135G>A
NG_008472.2:g.10135G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.304G>A MANE Select ENSP00000262340.5:p.Glu102Lys
ENST00000262340.5:c.304G>A ENSP00000262340.5:p.Glu102Lys
NM_000329.2:c.304G>A NP_000320.1:p.Glu102Lys
XM_017002027.1:c.28G>A XP_016857516.1:p.Glu10Lys
NM_000329.3:c.304G>A MANE Select NP_000320.1:p.Glu102Lys
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