Canonical Allele Identifier: CA1141337296
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444725A= , CM000663.2:g.68444725A= GRCh38
NC_000001.10:g.68910408A= , CM000663.1:g.68910408A= GRCh37
NC_000001.9:g.68682996A= NCBI36
NG_008472.1:g.10235T=
NG_008472.2:g.10235T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.353+51T= MANE Select ENSP00000262340.5:n.353+51T=
ENST00000262340.5:c.353+51T= ENSP00000262340.5:n.353+51T=
NM_000329.2:c.353+51T= NP_000320.1:n.353+51T=
XM_017002027.1:c.77+51T= XP_016857516.1:n.77+51T=
NM_000329.3:c.353+51T= MANE Select NP_000320.1:n.353+51T=