Canonical Allele Identifier: CA1173558051
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2941898
ClinVar RCV Id: RCV003802920
dbSNP Id: rs748853700
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431463C>T , CM000663.2:g.68431463C>T GRCh38
NC_000001.10:g.68897146C>T , CM000663.1:g.68897146C>T GRCh37
NC_000001.9:g.68669734C>T NCBI36
NG_008472.1:g.23497G>A
NG_008472.2:g.23497G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1243+8G>A MANE Select ENSP00000262340.5:n.1243+8G>A
ENST00000262340.5:c.1243+8G>A ENSP00000262340.5:n.1243+8G>A
NM_000329.2:c.1243+8G>A NP_000320.1:n.1243+8G>A
XM_017002027.1:c.967+8G>A XP_016857516.1:n.967+8G>A
NM_000329.3:c.1243+8G>A MANE Select NP_000320.1:n.1243+8G>A
Search 100 bp 5'
Search 100 bp 3'