Canonical Allele Identifier: CA1173561343
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1557600259
gnomAD v4: 1-68439508-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68439508C>T , CM000663.2:g.68439508C>T GRCh38
NC_000001.10:g.68905191C>T , CM000663.1:g.68905191C>T GRCh37
NC_000001.9:g.68677779C>T NCBI36
NG_008472.1:g.15452G>A
NG_008472.2:g.15452G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.725+53G>A MANE Select ENSP00000262340.5:n.725+53G>A
ENST00000262340.5:c.725+53G>A ENSP00000262340.5:n.725+53G>A
NM_000329.2:c.725+53G>A NP_000320.1:n.725+53G>A
XM_017002027.1:c.449+53G>A XP_016857516.1:n.449+53G>A
NM_000329.3:c.725+53G>A MANE Select NP_000320.1:n.725+53G>A
Search 100 bp 5'
Search 100 bp 3'