Canonical Allele Identifier: CA902299
Gene: RPE65 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.68438228G>A
GRCh37 chr1:g.68903911G>A
Revel Score:
ENST00000262340 (MANE Select) 0.638
gnomAD v4:
chr1-68438228-G-A
Joint Max Group AF 0.00003588 (SAS)
Exomes Max Group AF 0.00003765 (SAS)
ClinVar RCV:
RCV002466805
ClinVar Variation:
1803135
dbSNP:
121917744
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438228G>A , CM000663.2:g.68438228G>A GRCh38
NC_000001.10:g.68903911G>A , CM000663.1:g.68903911G>A GRCh37
NC_000001.9:g.68676499G>A NCBI36
NG_008472.1:g.16732C>T
NG_008472.2:g.16732C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1087C>T MANE Select ENSP00000262340.5:p.Pro363Ser
ENST00000262340.5:c.1087C>T ENSP00000262340.5:p.Pro363Ser
NM_000329.2:c.1087C>T NP_000320.1:p.Pro363Ser
XM_017002027.1:c.811C>T XP_016857516.1:p.Pro271Ser
NM_000329.3:c.1087C>T MANE Select NP_000320.1:p.Pro363Ser
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