Canonical Allele Identifier: CA226499

Gene: RPE65

Linked Data

• ClinVar Variation Id: 98835
• ClinVar RCV Id: RCV000085160 ; RCV001074061 ; RCV001323215 ; RCV003466997 ; RCV003764786
• dbSNP Id: rs62636299
• gnomAD v2: 1-68897054-C-G
• gnomAD v3: 1-68431371-C-G
• gnomAD v4: 1-68431371-C-G
• MyVariant Identifiers: chr1:g.68897054C>G (hg19) ; chr1:g.68431371C>G (hg38)
• ERepo: CA226499/MONDO:0100368/120

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68431371C>G , CM000663.2:g.68431371C>G	GRCh38
NC_000001.10:g.68897054C>G , CM000663.1:g.68897054C>G	GRCh37
NC_000001.9:g.68669642C>G	NCBI36
NG_008472.1:g.23589G>C
NG_008472.2:g.23589G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1249G>C MANE Select	ENSP00000262340.5:p.Glu417Gln
ENST00000262340.5:c.1249G>C	ENSP00000262340.5:p.Glu417Gln
NM_000329.2:c.1249G>C	NP_000320.1:p.Glu417Gln
XM_017002027.1:c.973G>C	XP_016857516.1:p.Glu325Gln
NM_000329.3:c.1249G>C MANE Select	NP_000320.1:p.Glu417Gln