Canonical Allele Identifier: CA1173557413
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429763T= , CM000663.2:g.68429763T= GRCh38
NC_000001.10:g.68895446T= , CM000663.1:g.68895446T= GRCh37
NC_000001.9:g.68668034T= NCBI36
NG_008472.1:g.25197A=
NG_008472.2:g.25197A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*13A= MANE Select ENSP00000262340.5:n.*13A=
ENST00000262340.5:c.*13A= ENSP00000262340.5:n.*13A=
NM_000329.2:c.*13A= NP_000320.1:n.*13A=
XM_017002027.1:c.*13A= XP_016857516.1:n.*13A=
NM_000329.3:c.*13A= MANE Select NP_000320.1:n.*13A=