Canonical Allele Identifier: CA1173557949
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431191G= , CM000663.2:g.68431191G= GRCh38
NC_000001.10:g.68896874G= , CM000663.1:g.68896874G= GRCh37
NC_000001.9:g.68669462G= NCBI36
NG_008472.1:g.23769C=
NG_008472.2:g.23769C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1339-15C= MANE Select ENSP00000262340.5:n.1339-15C=
ENST00000262340.5:c.1339-15C= ENSP00000262340.5:n.1339-15C=
NM_000329.2:c.1339-15C= NP_000320.1:n.1339-15C=
XM_017002027.1:c.1063-15C= XP_016857516.1:n.1063-15C=
NM_000329.3:c.1339-15C= MANE Select NP_000320.1:n.1339-15C=