Canonical Allele Identifier: CA340742376
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 870344
ClinVar RCV Id: RCV001089891 RCV001102321 RCV001862663 RCV003769014
dbSNP Id: rs1645824187
gnomAD v4: 1-68431292-A-G
MyVariant Identifiers: chr1:g.68896975A>G (hg19) chr1:g.68431292A>G (hg38)
ERepo: CA340742376/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431292A>G , CM000663.2:g.68431292A>G GRCh38
NC_000001.10:g.68896975A>G , CM000663.1:g.68896975A>G GRCh37
NC_000001.9:g.68669563A>G NCBI36
NG_008472.1:g.23668T>C
NG_008472.2:g.23668T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1328T>C MANE Select ENSP00000262340.5:p.Val443Ala
ENST00000262340.5:c.1328T>C ENSP00000262340.5:p.Val443Ala
NM_000329.2:c.1328T>C NP_000320.1:p.Val443Ala
XM_017002027.1:c.1052T>C XP_016857516.1:p.Val351Ala
NM_000329.3:c.1328T>C MANE Select NP_000320.1:p.Val443Ala
Search 100 bp 5'
Search 100 bp 3'