Canonical Allele Identifier: CA226579
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98889
ClinVar RCV Id: RCV003764797
dbSNP Id: rs61752896
gnomAD v2: 1-68905254-A-C
gnomAD v3: 1-68439571-A-C
gnomAD v4: 1-68439571-A-C
MyVariant Identifiers: chr1:g.68905254A>C (hg19) chr1:g.68439571A>C (hg38)
ERepo: CA226579/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68439571A>C , CM000663.2:g.68439571A>C GRCh38
NC_000001.10:g.68905254A>C , CM000663.1:g.68905254A>C GRCh37
NC_000001.9:g.68677842A>C NCBI36
NG_008472.1:g.15389T>G
NG_008472.2:g.15389T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.715T>G MANE Select ENSP00000262340.5:p.Tyr239Asp
ENST00000262340.5:c.715T>G ENSP00000262340.5:p.Tyr239Asp
NM_000329.2:c.715T>G NP_000320.1:p.Tyr239Asp
XM_017002027.1:c.439T>G XP_016857516.1:p.Tyr147Asp
NM_000329.3:c.715T>G MANE Select NP_000320.1:p.Tyr239Asp
Search 100 bp 5'
Search 100 bp 3'