Canonical Allele Identifier: CA2574402876
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68431252-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431252G>A , CM000663.2:g.68431252G>A GRCh38
NC_000001.10:g.68896935G>A , CM000663.1:g.68896935G>A GRCh37
NC_000001.9:g.68669523G>A NCBI36
NG_008472.1:g.23708C>T
NG_008472.2:g.23708C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1338+30C>T MANE Select ENSP00000262340.5:n.1338+30C>T
ENST00000262340.5:c.1338+30C>T ENSP00000262340.5:n.1338+30C>T
NM_000329.2:c.1338+30C>T NP_000320.1:n.1338+30C>T
XM_017002027.1:c.1062+30C>T XP_016857516.1:n.1062+30C>T
NM_000329.3:c.1338+30C>T MANE Select NP_000320.1:n.1338+30C>T
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