Canonical Allele Identifier: CA1173557412
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429759A= , CM000663.2:g.68429759A= GRCh38
NC_000001.10:g.68895442A= , CM000663.1:g.68895442A= GRCh37
NC_000001.9:g.68668030A= NCBI36
NG_008472.1:g.25201T=
NG_008472.2:g.25201T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*17T= MANE Select ENSP00000262340.5:n.*17T=
ENST00000262340.5:c.*17T= ENSP00000262340.5:n.*17T=
NM_000329.2:c.*17T= NP_000320.1:n.*17T=
XM_017002027.1:c.*17T= XP_016857516.1:n.*17T=
NM_000329.3:c.*17T= MANE Select NP_000320.1:n.*17T=