Canonical Allele Identifier: CA340742458
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1055647
ClinVar RCV Id: RCV001364351
dbSNP Id: rs62637002
gnomAD v4: 1-68431313-C-T
MyVariant Identifiers: chr1:g.68896996C>T (hg19) chr1:g.68431313C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431313C>T , CM000663.2:g.68431313C>T GRCh38
NC_000001.10:g.68896996C>T , CM000663.1:g.68896996C>T GRCh37
NC_000001.9:g.68669584C>T NCBI36
NG_008472.1:g.23647G>A
NG_008472.2:g.23647G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1307G>A MANE Select ENSP00000262340.5:p.Gly436Glu
ENST00000262340.5:c.1307G>A ENSP00000262340.5:p.Gly436Glu
NM_000329.2:c.1307G>A NP_000320.1:p.Gly436Glu
XM_017002027.1:c.1031G>A XP_016857516.1:p.Gly344Glu
NM_000329.3:c.1307G>A MANE Select NP_000320.1:p.Gly436Glu
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