Canonical Allele Identifier: CA340742114
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 870343
dbSNP Id: rs1645823028

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431135C>T , CM000663.2:g.68431135C>T GRCh38
NC_000001.10:g.68896818C>T , CM000663.1:g.68896818C>T GRCh37
NC_000001.9:g.68669406C>T NCBI36
NG_008472.1:g.23825G>A
NG_008472.2:g.23825G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1380G>A MANE Select ENSP00000262340.5:p.Trp460Ter
ENST00000262340.5:c.1380G>A ENSP00000262340.5:p.Trp460Ter
NM_000329.2:c.1380G>A NP_000320.1:p.Trp460Ter
XM_017002027.1:c.1104G>A XP_016857516.1:p.Trp368Ter
NM_000329.3:c.1380G>A MANE Select NP_000320.1:p.Trp460Ter