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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
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Canonical Allele Identifier:
CA226472
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13118
ClinVar RCV Id:
RCV000013997
RCV000085141
RCV000986328
RCV001047062
RCV001831568
RCV002496352
dbSNP Id:
rs61752909
gnomAD v3:
1-68438293-A-G
gnomAD v4:
1-68438293-A-G
MyVariant Identifiers:
chr1:g.68903976A>G (hg19)
chr1:g.68438293A>G (hg38)
PubMed:
PMID:9501220
ERepo:
CA226472/MONDO:0100368/120
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.68438293A>G , CM000663.2:g.68438293A>G
GRCh38
NC_000001.10:g.68903976A>G , CM000663.1:g.68903976A>G
GRCh37
NC_000001.9:g.68676564A>G
NCBI36
NG_008472.1:g.16667T>C
NG_008472.2:g.16667T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000262340.6:c.1022T>C
MANE Select
ENSP00000262340.5:p.Leu341Ser
ENST00000262340.5:c.1022T>C
ENSP00000262340.5:p.Leu341Ser
NM_000329.2:c.1022T>C
NP_000320.1:p.Leu341Ser
XM_017002027.1:c.746T>C
XP_016857516.1:p.Leu249Ser
NM_000329.3:c.1022T>C
MANE Select
NP_000320.1:p.Leu341Ser
Search 100 bp 5'
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