Canonical Allele Identifier: CA2841905887
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429727G>T , CM000663.2:g.68429727G>T GRCh38
NC_000001.10:g.68895410G>T , CM000663.1:g.68895410G>T GRCh37
NC_000001.9:g.68667998G>T NCBI36
NG_008472.1:g.25233C>A
NG_008472.2:g.25233C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*49C>A MANE Select ENSP00000262340.5:n.*49C>A
ENST00000262340.5:c.*49C>A ENSP00000262340.5:n.*49C>A
NM_000329.2:c.*49C>A NP_000320.1:n.*49C>A
XM_017002027.1:c.*49C>A XP_016857516.1:n.*49C>A
NM_000329.3:c.*49C>A MANE Select NP_000320.1:n.*49C>A