×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA256730
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13117
ClinVar RCV Id:
RCV000013996
RCV000815732
RCV001250693
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)
ERepo:
CA256730/MONDO:0100368/120
PubMed:
PMID:9326941
JSON-LD
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
Search 100 bp 5'
Search 100 bp 3'