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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:
CA226515
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98846
ClinVar RCV Id:
RCV003764787
dbSNP Id:
rs62637007
gnomAD v4:
1-68431097-A-T
MyVariant Identifiers:
chr1:g.68896780A>T (hg19)
chr1:g.68431097A>T (hg38)
ERepo:
CA226515/MONDO:0100368/120
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.68431097A>T , CM000663.2:g.68431097A>T
GRCh38
NC_000001.10:g.68896780A>T , CM000663.1:g.68896780A>T
GRCh37
NC_000001.9:g.68669368A>T
NCBI36
NG_008472.1:g.23863T>A
NG_008472.2:g.23863T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000262340.6:c.1418T>A
MANE Select
ENSP00000262340.5:p.Val473Asp
ENST00000262340.5:c.1418T>A
ENSP00000262340.5:p.Val473Asp
NM_000329.2:c.1418T>A
NP_000320.1:p.Val473Asp
XM_017002027.1:c.1142T>A
XP_016857516.1:p.Val381Asp
NM_000329.3:c.1418T>A
MANE Select
NP_000320.1:p.Val473Asp
Search 100 bp 5'
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