Canonical Allele Identifier: CA226523
Gene: RPE65 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.68446753G>A
GRCh37 chr1:g.68912436G>A
Revel Score:
ENST00000262340 (MANE Select) 0.932
gnomAD v2:
1:68912436 G / A
gnomAD v4:
chr1-68446753-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000085179
RCV003466999
ClinVar Variation:
98851
dbSNP:
61752866
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68446753G>A , CM000663.2:g.68446753G>A GRCh38
NC_000001.10:g.68912436G>A , CM000663.1:g.68912436G>A GRCh37
NC_000001.9:g.68685024G>A NCBI36
NG_008472.1:g.8207C>T
NG_008472.2:g.8207C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.202C>T MANE Select ENSP00000262340.5:p.His68Tyr
ENST00000262340.5:c.202C>T ENSP00000262340.5:p.His68Tyr
NM_000329.2:c.202C>T NP_000320.1:p.His68Tyr
XM_017002027.1:c.-31-1870C>T XP_016857516.1:n.-31-1870C>T
NM_000329.3:c.202C>T MANE Select NP_000320.1:p.His68Tyr
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