Canonical Allele Identifier: CA226497

Gene: RPE65

Linked Data

• ClinVar Variation Id: 98834
• ClinVar RCV Id: RCV000085159 ; RCV001041992 ; RCV001089894 ; RCV002509207
• dbSNP Id: rs62636298
• gnomAD v3: 1-68431491-A-G
• gnomAD v4: 1-68431491-A-G
• MyVariant Identifiers: chr1:g.68897174A>G (hg19) ; chr1:g.68431491A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68431491A>G , CM000663.2:g.68431491A>G	GRCh38
NC_000001.10:g.68897174A>G , CM000663.1:g.68897174A>G	GRCh37
NC_000001.9:g.68669762A>G	NCBI36
NG_008472.1:g.23469T>C
NG_008472.2:g.23469T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1223T>C MANE Select	ENSP00000262340.5:p.Leu408Pro
ENST00000262340.5:c.1223T>C	ENSP00000262340.5:p.Leu408Pro
NM_000329.2:c.1223T>C	NP_000320.1:p.Leu408Pro
XM_017002027.1:c.947T>C	XP_016857516.1:p.Leu316Pro
NM_000329.3:c.1223T>C MANE Select	NP_000320.1:p.Leu408Pro