Canonical Allele Identifier: CA340741451
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429912A>T , CM000663.2:g.68429912A>T GRCh38
NC_000001.10:g.68895595A>T , CM000663.1:g.68895595A>T GRCh37
NC_000001.9:g.68668183A>T NCBI36
NG_008472.1:g.25048T>A
NG_008472.2:g.25048T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1466T>A MANE Select ENSP00000262340.5:p.Val489Glu
ENST00000262340.5:c.1466T>A ENSP00000262340.5:p.Val489Glu
NM_000329.2:c.1466T>A NP_000320.1:p.Val489Glu
XM_017002027.1:c.1190T>A XP_016857516.1:p.Val397Glu
NM_000329.3:c.1466T>A MANE Select NP_000320.1:p.Val489Glu