Canonical Allele Identifier: CA340741106
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429848T>G , CM000663.2:g.68429848T>G GRCh38
NC_000001.10:g.68895531T>G , CM000663.1:g.68895531T>G GRCh37
NC_000001.9:g.68668119T>G NCBI36
NG_008472.1:g.25112A>C
NG_008472.2:g.25112A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1530A>C MANE Select ENSP00000262340.5:p.Leu510Phe
ENST00000262340.5:c.1530A>C ENSP00000262340.5:p.Leu510Phe
NM_000329.2:c.1530A>C NP_000320.1:p.Leu510Phe
XM_017002027.1:c.1254A>C XP_016857516.1:p.Leu418Phe
NM_000329.3:c.1530A>C MANE Select NP_000320.1:p.Leu510Phe