Canonical Allele Identifier: CA902151
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 813222
ClinVar RCV Id: RCV001199757 RCV003769401
dbSNP Id: rs62653015
ExAC: 1:68895610 C / A
gnomAD v2: 1-68895610-C-A
gnomAD v3: 1-68429927-C-A
gnomAD v4: 1-68429927-C-A
MyVariant Identifiers: chr1:g.68895610C>A (hg19) chr1:g.68429927C>A (hg38)
ERepo: CA902151/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429927C>A , CM000663.2:g.68429927C>A GRCh38
NC_000001.10:g.68895610C>A , CM000663.1:g.68895610C>A GRCh37
NC_000001.9:g.68668198C>A NCBI36
NG_008472.1:g.25033G>T
NG_008472.2:g.25033G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1451G>T MANE Select ENSP00000262340.5:p.Gly484Val
ENST00000262340.5:c.1451G>T ENSP00000262340.5:p.Gly484Val
NM_000329.2:c.1451G>T NP_000320.1:p.Gly484Val
XM_017002027.1:c.1175G>T XP_016857516.1:p.Gly392Val
NM_000329.3:c.1451G>T MANE Select NP_000320.1:p.Gly484Val
Search 100 bp 5'
Search 100 bp 3'