Canonical Allele Identifier: CA256730
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 13117
ClinVar RCV Id: RCV001250693 RCV000815732 RCV001826460 RCV003460468 RCV000013996
dbSNP Id: rs121917744
ExAC: 1:68903911 G / T
gnomAD v2: 1-68903911-G-T
gnomAD v4: 1-68438228-G-T
MyVariant Identifiers: chr1:g.68903911G>T (hg19) chr1:g.68438228G>T (hg38)
PubMed: PMID:9326941
ERepo: CA256730/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438228G>T , CM000663.2:g.68438228G>T GRCh38
NC_000001.10:g.68903911G>T , CM000663.1:g.68903911G>T GRCh37
NC_000001.9:g.68676499G>T NCBI36
NG_008472.1:g.16732C>A
NG_008472.2:g.16732C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1087C>A MANE Select ENSP00000262340.5:p.Pro363Thr
ENST00000262340.5:c.1087C>A ENSP00000262340.5:p.Pro363Thr
NM_000329.2:c.1087C>A NP_000320.1:p.Pro363Thr
XM_017002027.1:c.811C>A XP_016857516.1:p.Pro271Thr
NM_000329.3:c.1087C>A MANE Select NP_000320.1:p.Pro363Thr
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