Canonical Allele Identifier: CA1173563445
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444712A= , CM000663.2:g.68444712A= GRCh38
NC_000001.10:g.68910395A= , CM000663.1:g.68910395A= GRCh37
NC_000001.9:g.68682983A= NCBI36
NG_008472.1:g.10248T=
NG_008472.2:g.10248T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.354-40T= MANE Select ENSP00000262340.5:n.354-40T=
ENST00000262340.5:c.354-40T= ENSP00000262340.5:n.354-40T=
NM_000329.2:c.354-40T= NP_000320.1:n.354-40T=
XM_017002027.1:c.78-40T= XP_016857516.1:n.78-40T=
NM_000329.3:c.354-40T= MANE Select NP_000320.1:n.354-40T=