Canonical Allele Identifier: CA340747877
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444614G>T , CM000663.2:g.68444614G>T GRCh38
NC_000001.10:g.68910297G>T , CM000663.1:g.68910297G>T GRCh37
NC_000001.9:g.68682885G>T NCBI36
NG_008472.1:g.10346C>A
NG_008472.2:g.10346C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.412C>A MANE Select ENSP00000262340.5:p.Pro138Thr
ENST00000262340.5:c.412C>A ENSP00000262340.5:p.Pro138Thr
NM_000329.2:c.412C>A NP_000320.1:p.Pro138Thr
XM_017002027.1:c.136C>A XP_016857516.1:p.Pro46Thr
NM_000329.3:c.412C>A MANE Select NP_000320.1:p.Pro138Thr