Canonical Allele Identifier: CA1173557391
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429715T= , CM000663.2:g.68429715T= GRCh38
NC_000001.10:g.68895398T= , CM000663.1:g.68895398T= GRCh37
NC_000001.9:g.68667986T= NCBI36
NG_008472.1:g.25245A=
NG_008472.2:g.25245A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*61A= MANE Select ENSP00000262340.5:n.*61A=
ENST00000262340.5:c.*61A= ENSP00000262340.5:n.*61A=
NM_000329.2:c.*61A= NP_000320.1:n.*61A=
XM_017002027.1:c.*61A= XP_016857516.1:n.*61A=
NM_000329.3:c.*61A= MANE Select NP_000320.1:n.*61A=