Canonical Allele Identifier: CA340748974
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2678444
ClinVar RCV Id: RCV003466254
dbSNP Id: rs1645945392
gnomAD v3: 1-68446747-A-C
gnomAD v4: 1-68446747-A-C
MyVariant Identifiers: chr1:g.68912430A>C (hg19) chr1:g.68446747A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68446747A>C , CM000663.2:g.68446747A>C GRCh38
NC_000001.10:g.68912430A>C , CM000663.1:g.68912430A>C GRCh37
NC_000001.9:g.68685018A>C NCBI36
NG_008472.1:g.8213T>G
NG_008472.2:g.8213T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.208T>G MANE Select ENSP00000262340.5:p.Phe70Val
ENST00000262340.5:c.208T>G ENSP00000262340.5:p.Phe70Val
NM_000329.2:c.208T>G NP_000320.1:p.Phe70Val
XM_017002027.1:c.-31-1864T>G XP_016857516.1:n.-31-1864T>G
NM_000329.3:c.208T>G MANE Select NP_000320.1:p.Phe70Val
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