Canonical Allele Identifier: CA2740090761
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2951104
ClinVar RCV Id: RCV003802366
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431187G>A , CM000663.2:g.68431187G>A GRCh38
NC_000001.10:g.68896870G>A , CM000663.1:g.68896870G>A GRCh37
NC_000001.9:g.68669458G>A NCBI36
NG_008472.1:g.23773C>T
NG_008472.2:g.23773C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1339-11C>T MANE Select ENSP00000262340.5:n.1339-11C>T
ENST00000262340.5:c.1339-11C>T ENSP00000262340.5:n.1339-11C>T
NM_000329.2:c.1339-11C>T NP_000320.1:n.1339-11C>T
XM_017002027.1:c.1063-11C>T XP_016857516.1:n.1063-11C>T
NM_000329.3:c.1339-11C>T MANE Select NP_000320.1:n.1339-11C>T
Search 100 bp 5'
Search 100 bp 3'