Canonical Allele Identifier: CA23569536
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1149651
ClinVar RCV Id: RCV001489952
dbSNP Id: rs780869180
gnomAD v4: 1-68438298-A-G
MyVariant Identifiers: chr1:g.68903981A>G (hg19) chr1:g.68438298A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438298A>G , CM000663.2:g.68438298A>G GRCh38
NC_000001.10:g.68903981A>G , CM000663.1:g.68903981A>G GRCh37
NC_000001.9:g.68676569A>G NCBI36
NG_008472.1:g.16662T>C
NG_008472.2:g.16662T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1017T>C MANE Select ENSP00000262340.5:p.Asn339=
ENST00000262340.5:c.1017T>C ENSP00000262340.5:p.Asn339=
NM_000329.2:c.1017T>C NP_000320.1:p.Asn339=
XM_017002027.1:c.741T>C XP_016857516.1:p.Asn247=
NM_000329.3:c.1017T>C MANE Select NP_000320.1:p.Asn339=
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