×
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:
CA340741548
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1321180
ClinVar RCV Id:
RCV001775532
RCV003120686
RCV003470896
dbSNP Id:
rs1317871521
gnomAD v2:
1-68895611-C-T
gnomAD v4:
1-68429928-C-T
MyVariant Identifiers:
chr1:g.68895611C>T (hg19)
chr1:g.68429928C>T (hg38)
ERepo:
CA340741548/MONDO:0100368/120
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.68429928C>T , CM000663.2:g.68429928C>T
GRCh38
NC_000001.10:g.68895611C>T , CM000663.1:g.68895611C>T
GRCh37
NC_000001.9:g.68668199C>T
NCBI36
NG_008472.1:g.25032G>A
NG_008472.2:g.25032G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000262340.6:c.1451-1G>A
MANE Select
ENSP00000262340.5:n.1451-1G>A
ENST00000262340.5:c.1451-1G>A
ENSP00000262340.5:n.1451-1G>A
NM_000329.2:c.1451-1G>A
NP_000320.1:n.1451-1G>A
XM_017002027.1:c.1175-1G>A
XP_016857516.1:n.1175-1G>A
NM_000329.3:c.1451-1G>A
MANE Select
NP_000320.1:n.1451-1G>A
Search 100 bp 5'
Search 100 bp 3'