Canonical Allele Identifier: CA226517

Gene: RPE65

Linked Data

• ClinVar Variation Id: 98848
• ClinVar RCV Id: RCV000085175 ; RCV001250703 ; RCV001826773 ; RCV001854497 ; RCV003764788
• dbSNP Id: rs62653015
• ExAC: 1:68895610 C / T
• gnomAD v2: 1-68895610-C-T
• gnomAD v4: 1-68429927-C-T
• MyVariant Identifiers: chr1:g.68895610C>T (hg19) ; chr1:g.68429927C>T (hg38)
• ERepo: CA226517/MONDO:0100368/120

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1451G>A MANE Select	ENSP00000262340.5:p.Gly484Asp
ENST00000262340.5:c.1451G>A	ENSP00000262340.5:p.Gly484Asp
NM_000329.2:c.1451G>A	NP_000320.1:p.Gly484Asp
XM_017002027.1:c.1175G>A	XP_016857516.1:p.Gly392Asp
NM_000329.3:c.1451G>A MANE Select	NP_000320.1:p.Gly484Asp