Canonical Allele Identifier: CA146044
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 92860
ClinVar RCV Id: RCV000078656 RCV001102427 RCV001102426 RCV000945854 RCV001258234 RCV001275282 RCV001727561 RCV003460744
dbSNP Id: rs149916178
ExAC: 1:68904660 A / C
gnomAD v2: 1-68904660-A-C
gnomAD v3: 1-68438977-A-C
gnomAD v4: 1-68438977-A-C
MyVariant Identifiers: chr1:g.68904660A>C (hg19) chr1:g.68438977A>C (hg38)
ERepo: CA146044/MONDO:0100368/120
PubMed: PMID:19431183 PMID:23757202 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438977A>C , CM000663.2:g.68438977A>C GRCh38
NC_000001.10:g.68904660A>C , CM000663.1:g.68904660A>C GRCh37
NC_000001.9:g.68677248A>C NCBI36
NG_008472.1:g.15983T>G
NG_008472.2:g.15983T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.963T>G MANE Select ENSP00000262340.5:p.Asn321Lys
ENST00000262340.5:c.963T>G ENSP00000262340.5:p.Asn321Lys
NM_000329.2:c.963T>G NP_000320.1:p.Asn321Lys
XM_017002027.1:c.687T>G XP_016857516.1:p.Asn229Lys
NM_000329.3:c.963T>G MANE Select NP_000320.1:p.Asn321Lys
Search 100 bp 5'
Search 100 bp 3'