Canonical Allele Identifier: CA226515
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98846
ClinVar RCV Id: RCV000085173 RCV001257424 RCV001250706 RCV003764787
dbSNP Id: rs62637007
gnomAD v4: 1-68431097-A-T
MyVariant Identifiers: chr1:g.68896780A>T (hg19) chr1:g.68431097A>T (hg38)
ERepo: CA226515/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431097A>T , CM000663.2:g.68431097A>T GRCh38
NC_000001.10:g.68896780A>T , CM000663.1:g.68896780A>T GRCh37
NC_000001.9:g.68669368A>T NCBI36
NG_008472.1:g.23863T>A
NG_008472.2:g.23863T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1418T>A MANE Select ENSP00000262340.5:p.Val473Asp
ENST00000262340.5:c.1418T>A ENSP00000262340.5:p.Val473Asp
NM_000329.2:c.1418T>A NP_000320.1:p.Val473Asp
XM_017002027.1:c.1142T>A XP_016857516.1:p.Val381Asp
NM_000329.3:c.1418T>A MANE Select NP_000320.1:p.Val473Asp
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