Canonical Allele Identifier: CA902518
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 755627
ClinVar RCV Id: RCV000933065 RCV001097115 RCV001097116 RCV001275287 RCV003890087
dbSNP Id: rs992113946
ExAC: 1:68910334 T / C
gnomAD v2: 1-68910334-T-C
gnomAD v3: 1-68444651-T-C
gnomAD v4: 1-68444651-T-C
MyVariant Identifiers: chr1:g.68910334T>C (hg19) chr1:g.68910334_68910335delinsCC (hg19) chr1:g.68444651T>C (hg38) chr1:g.68444651_68444652delinsCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444651T>C , CM000663.2:g.68444651T>C GRCh38
NC_000001.10:g.68910334T>C , CM000663.1:g.68910334T>C GRCh37
NC_000001.9:g.68682922T>C NCBI36
NG_008472.1:g.10309A>G
NG_008472.2:g.10309A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.375A>G MANE Select ENSP00000262340.5:p.Gly125=
ENST00000262340.5:c.375A>G ENSP00000262340.5:p.Gly125=
NM_000329.2:c.375A>G NP_000320.1:p.Gly125=
XM_017002027.1:c.99A>G XP_016857516.1:p.Gly33=
NM_000329.3:c.375A>G MANE Select NP_000320.1:p.Gly125=
Search 100 bp 5'
Search 100 bp 3'