Canonical Allele Identifier: CA523298919
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1594314
ClinVar RCV Id: RCV002105617
dbSNP Id: rs1291761354
gnomAD v2: 1-68895619-C-G
gnomAD v4: 1-68429936-C-G
MyVariant Identifiers: chr1:g.68895619C>G (hg19) chr1:g.68429936C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429936C>G , CM000663.2:g.68429936C>G GRCh38
NC_000001.10:g.68895619C>G , CM000663.1:g.68895619C>G GRCh37
NC_000001.9:g.68668207C>G NCBI36
NG_008472.1:g.25024G>C
NG_008472.2:g.25024G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-9G>C MANE Select ENSP00000262340.5:n.1451-9G>C
ENST00000262340.5:c.1451-9G>C ENSP00000262340.5:n.1451-9G>C
NM_000329.2:c.1451-9G>C NP_000320.1:n.1451-9G>C
XM_017002027.1:c.1175-9G>C XP_016857516.1:n.1175-9G>C
NM_000329.3:c.1451-9G>C MANE Select NP_000320.1:n.1451-9G>C
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