Canonical Allele Identifier: CA1173557396
Gene: RPE65 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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