Canonical Allele Identifier: CA902152
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1623685
ClinVar RCV Id: RCV002110243
dbSNP Id: rs773933584
ExAC: 1:68895617 A / G
gnomAD v2: 1-68895617-A-G
gnomAD v3: 1-68429934-A-G
gnomAD v4: 1-68429934-A-G
MyVariant Identifiers: chr1:g.68895617A>G (hg19) chr1:g.68429934A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429934A>G , CM000663.2:g.68429934A>G GRCh38
NC_000001.10:g.68895617A>G , CM000663.1:g.68895617A>G GRCh37
NC_000001.9:g.68668205A>G NCBI36
NG_008472.1:g.25026T>C
NG_008472.2:g.25026T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-7T>C MANE Select ENSP00000262340.5:n.1451-7T>C
ENST00000262340.5:c.1451-7T>C ENSP00000262340.5:n.1451-7T>C
NM_000329.2:c.1451-7T>C NP_000320.1:n.1451-7T>C
XM_017002027.1:c.1175-7T>C XP_016857516.1:n.1175-7T>C
NM_000329.3:c.1451-7T>C MANE Select NP_000320.1:n.1451-7T>C
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