Canonical Allele Identifier: CA1143954006
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431481C= , CM000663.2:g.68431481C= GRCh38
NC_000001.10:g.68897164C= , CM000663.1:g.68897164C= GRCh37
NC_000001.9:g.68669752C= NCBI36
NG_008472.1:g.23479G=
NG_008472.2:g.23479G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1233G= MANE Select ENSP00000262340.5:p.Gly411=
ENST00000262340.5:c.1233G= ENSP00000262340.5:p.Gly411=
NM_000329.2:c.1233G= NP_000320.1:p.Gly411=
XM_017002027.1:c.957G= XP_016857516.1:p.Gly319=
NM_000329.3:c.1233G= MANE Select NP_000320.1:p.Gly411=