Canonical Allele Identifier: CA16617183
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 421620
ClinVar RCV Id: RCV000483168
dbSNP Id: rs1064795255
gnomAD v2: 1-68897059-G-A
gnomAD v3: 1-68431376-G-A
gnomAD v4: 1-68431376-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431376G>A , CM000663.2:g.68431376G>A GRCh38
NC_000001.10:g.68897059G>A , CM000663.1:g.68897059G>A GRCh37
NC_000001.9:g.68669647G>A NCBI36
NG_008472.1:g.23584C>T
NG_008472.2:g.23584C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1244C>T MANE Select ENSP00000262340.5:p.Ala415Val
ENST00000262340.5:c.1244C>T ENSP00000262340.5:p.Ala415Val
NM_000329.2:c.1244C>T NP_000320.1:p.Ala415Val
XM_017002027.1:c.968C>T XP_016857516.1:p.Ala323Val
NM_000329.3:c.1244C>T MANE Select NP_000320.1:p.Ala415Val