Canonical Allele Identifier: CA226540
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98863
ClinVar RCV Id: RCV000085192 RCV000763389 RCV001275333 RCV001249229 RCV003764793 RCV003467000
dbSNP Id: rs62642584
ExAC: 1:68910508 C / A
gnomAD v2: 1-68910508-C-A
gnomAD v3: 1-68444825-C-A
gnomAD v4: 1-68444825-C-A
MyVariant Identifiers: chr1:g.68910508C>A (hg19) chr1:g.68444825C>A (hg38)
ERepo: CA226540/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444825C>A , CM000663.2:g.68444825C>A GRCh38
NC_000001.10:g.68910508C>A , CM000663.1:g.68910508C>A GRCh37
NC_000001.9:g.68683096C>A NCBI36
NG_008472.1:g.10135G>T
NG_008472.2:g.10135G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.304G>T MANE Select ENSP00000262340.5:p.Glu102Ter
ENST00000262340.5:c.304G>T ENSP00000262340.5:p.Glu102Ter
NM_000329.2:c.304G>T NP_000320.1:p.Glu102Ter
XM_017002027.1:c.28G>T XP_016857516.1:p.Glu10Ter
NM_000329.3:c.304G>T MANE Select NP_000320.1:p.Glu102Ter
Search 100 bp 5'
Search 100 bp 3'