Canonical Allele Identifier: CA226511
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98844
ClinVar RCV Id: RCV000085171
dbSNP Id: rs62637005
ExAC: 1:68896828 G / T
gnomAD v2: 1-68896828-G-T
gnomAD v4: 1-68431145-G-T
MyVariant Identifiers: chr1:g.68896828G>T (hg19) chr1:g.68431145G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431145G>T , CM000663.2:g.68431145G>T GRCh38
NC_000001.10:g.68896828G>T , CM000663.1:g.68896828G>T GRCh37
NC_000001.9:g.68669416G>T NCBI36
NG_008472.1:g.23815C>A
NG_008472.2:g.23815C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1370C>A MANE Select ENSP00000262340.5:p.Thr457Asn
ENST00000262340.5:c.1370C>A ENSP00000262340.5:p.Thr457Asn
NM_000329.2:c.1370C>A NP_000320.1:p.Thr457Asn
XM_017002027.1:c.1094C>A XP_016857516.1:p.Thr365Asn
NM_000329.3:c.1370C>A MANE Select NP_000320.1:p.Thr457Asn
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