Canonical Allele Identifier: CA2646150378
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2946832
ClinVar RCV Id: RCV003809070
gnomAD v4: 1-68444761-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444761T>C , CM000663.2:g.68444761T>C GRCh38
NC_000001.10:g.68910444T>C , CM000663.1:g.68910444T>C GRCh37
NC_000001.9:g.68683032T>C NCBI36
NG_008472.1:g.10199A>G
NG_008472.2:g.10199A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.353+15A>G MANE Select ENSP00000262340.5:n.353+15A>G
ENST00000262340.5:c.353+15A>G ENSP00000262340.5:n.353+15A>G
NM_000329.2:c.353+15A>G NP_000320.1:n.353+15A>G
XM_017002027.1:c.77+15A>G XP_016857516.1:n.77+15A>G
NM_000329.3:c.353+15A>G MANE Select NP_000320.1:n.353+15A>G
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