Canonical Allele Identifier: CA226509
Gene: RPE65 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.68431160A>C
GRCh37 chr1:g.68896843A>C
Revel Score:
ENST00000262340 (MANE Select) 0.945
gnomAD v2:
1:68896843 A / C
gnomAD v3:
1:68431160 A / C
gnomAD v4:
chr1-68431160-A-C
Joint Max Group AF 0.00001064 (AFR)
Genomes Max Group AF 0.0000192 (AFR)
Exomes Max Group AF 0.00000742 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431160A>C , CM000663.2:g.68431160A>C GRCh38
NC_000001.10:g.68896843A>C , CM000663.1:g.68896843A>C GRCh37
NC_000001.9:g.68669431A>C NCBI36
NG_008472.1:g.23800T>G
NG_008472.2:g.23800T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1355T>G MANE Select ENSP00000262340.5:p.Val452Gly
ENST00000262340.5:c.1355T>G ENSP00000262340.5:p.Val452Gly
NM_000329.2:c.1355T>G NP_000320.1:p.Val452Gly
XM_017002027.1:c.1079T>G XP_016857516.1:p.Val360Gly
NM_000329.3:c.1355T>G MANE Select NP_000320.1:p.Val452Gly
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