Canonical Allele Identifier: CA2573131985
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1557687
ClinVar RCV Id: RCV002197265
dbSNP Id: rs2100828143
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444766G>A , CM000663.2:g.68444766G>A GRCh38
NC_000001.10:g.68910449G>A , CM000663.1:g.68910449G>A GRCh37
NC_000001.9:g.68683037G>A NCBI36
NG_008472.1:g.10194C>T
NG_008472.2:g.10194C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.353+10C>T MANE Select ENSP00000262340.5:n.353+10C>T
ENST00000262340.5:c.353+10C>T ENSP00000262340.5:n.353+10C>T
NM_000329.2:c.353+10C>T NP_000320.1:n.353+10C>T
XM_017002027.1:c.77+10C>T XP_016857516.1:n.77+10C>T
NM_000329.3:c.353+10C>T MANE Select NP_000320.1:n.353+10C>T
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