Canonical Allele Identifier: CA226592
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98900
ClinVar RCV Id: RCV001089895 RCV001854499 RCV003323394
dbSNP Id: rs61752905
ExAC: 1:68904671 A / T
gnomAD v2: 1-68904671-A-T
gnomAD v3: 1-68438988-A-T
gnomAD v4: 1-68438988-A-T
MyVariant Identifiers: chr1:g.68904671A>T (hg19) chr1:g.68438988A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438988A>T , CM000663.2:g.68438988A>T GRCh38
NC_000001.10:g.68904671A>T , CM000663.1:g.68904671A>T GRCh37
NC_000001.9:g.68677259A>T NCBI36
NG_008472.1:g.15972T>A
NG_008472.2:g.15972T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.952T>A MANE Select ENSP00000262340.5:p.Tyr318Asn
ENST00000262340.5:c.952T>A ENSP00000262340.5:p.Tyr318Asn
NM_000329.2:c.952T>A NP_000320.1:p.Tyr318Asn
XM_017002027.1:c.676T>A XP_016857516.1:p.Tyr226Asn
NM_000329.3:c.952T>A MANE Select NP_000320.1:p.Tyr318Asn
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Search 100 bp 3'