Canonical Allele Identifier: CA738208737
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1397656153
gnomAD v3: 1-68430063-T-C
gnomAD v4: 1-68430063-T-C
MyVariant Identifiers: chr1:g.68895746T>C (hg19) chr1:g.68430063T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68430063T>C , CM000663.2:g.68430063T>C GRCh38
NC_000001.10:g.68895746T>C , CM000663.1:g.68895746T>C GRCh37
NC_000001.9:g.68668334T>C NCBI36
NG_008472.1:g.24897A>G
NG_008472.2:g.24897A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-136A>G MANE Select ENSP00000262340.5:n.1451-136A>G
ENST00000262340.5:c.1451-136A>G ENSP00000262340.5:n.1451-136A>G
NM_000329.2:c.1451-136A>G NP_000320.1:n.1451-136A>G
XM_017002027.1:c.1175-136A>G XP_016857516.1:n.1175-136A>G
NM_000329.3:c.1451-136A>G MANE Select NP_000320.1:n.1451-136A>G
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