Canonical Allele Identifier: CA1173558006
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431346T= , CM000663.2:g.68431346T= GRCh38
NC_000001.10:g.68897029T= , CM000663.1:g.68897029T= GRCh37
NC_000001.9:g.68669617T= NCBI36
NG_008472.1:g.23614A=
NG_008472.2:g.23614A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1274A= MANE Select ENSP00000262340.5:p.Lys425=
ENST00000262340.5:c.1274A= ENSP00000262340.5:p.Lys425=
NM_000329.2:c.1274A= NP_000320.1:p.Lys425=
XM_017002027.1:c.998A= XP_016857516.1:p.Lys333=
NM_000329.3:c.1274A= MANE Select NP_000320.1:p.Lys425=