Canonical Allele Identifier: CA1173557471
Gene: RPE65 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429935T= , CM000663.2:g.68429935T= GRCh38
NC_000001.10:g.68895618T= , CM000663.1:g.68895618T= GRCh37
NC_000001.9:g.68668206T= NCBI36
NG_008472.1:g.25025A=
NG_008472.2:g.25025A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-8A= MANE Select ENSP00000262340.5:n.1451-8A=
ENST00000262340.5:c.1451-8A= ENSP00000262340.5:n.1451-8A=
NM_000329.2:c.1451-8A= NP_000320.1:n.1451-8A=
XM_017002027.1:c.1175-8A= XP_016857516.1:n.1175-8A=
NM_000329.3:c.1451-8A= MANE Select NP_000320.1:n.1451-8A=
Search 100 bp 5'
Search 100 bp 3'