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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:
CA902254
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
660359
ClinVar RCV Id:
RCV000817537
RCV001075233
RCV001089892
RCV001593012
RCV001830793
RCV003461248
dbSNP Id:
rs774130993
ExAC:
1:68897192 C / T
gnomAD v2:
1-68897192-C-T
gnomAD v3:
1-68431509-C-T
gnomAD v4:
1-68431509-C-T
MyVariant Identifiers:
chr1:g.68897192C>T (hg19)
chr1:g.68431509C>T (hg38)
ERepo:
CA902254/MONDO:0100368/120
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.68431509C>T , CM000663.2:g.68431509C>T
GRCh38
NC_000001.10:g.68897192C>T , CM000663.1:g.68897192C>T
GRCh37
NC_000001.9:g.68669780C>T
NCBI36
NG_008472.1:g.23451G>A
NG_008472.2:g.23451G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000262340.6:c.1205G>A
MANE Select
ENSP00000262340.5:p.Trp402Ter
ENST00000262340.5:c.1205G>A
ENSP00000262340.5:p.Trp402Ter
NM_000329.2:c.1205G>A
NP_000320.1:p.Trp402Ter
XM_017002027.1:c.929G>A
XP_016857516.1:p.Trp310Ter
NM_000329.3:c.1205G>A
MANE Select
NP_000320.1:p.Trp402Ter
Search 100 bp 5'
Search 100 bp 3'