Canonical Allele Identifier: CA226540

Gene: RPE65

Linked Data

• ClinVar Variation Id: 98863
• ClinVar RCV Id: RCV000085192 ; RCV000763389 ; RCV001275333 ; RCV001249229 ; RCV003764793 ; RCV003467000
• dbSNP Id: rs62642584
• ExAC: 1:68910508 C / A
• gnomAD v2: 1-68910508-C-A
• gnomAD v3: 1-68444825-C-A
• gnomAD v4: 1-68444825-C-A
• MyVariant Identifiers: chr1:g.68910508C>A (hg19) ; chr1:g.68444825C>A (hg38)
• ERepo: CA226540/MONDO:0100368/120

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444825C>A , CM000663.2:g.68444825C>A	GRCh38
NC_000001.10:g.68910508C>A , CM000663.1:g.68910508C>A	GRCh37
NC_000001.9:g.68683096C>A	NCBI36
NG_008472.1:g.10135G>T
NG_008472.2:g.10135G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.304G>T MANE Select	ENSP00000262340.5:p.Glu102Ter
ENST00000262340.5:c.304G>T	ENSP00000262340.5:p.Glu102Ter
NM_000329.2:c.304G>T	NP_000320.1:p.Glu102Ter
XM_017002027.1:c.28G>T	XP_016857516.1:p.Glu10Ter
NM_000329.3:c.304G>T MANE Select	NP_000320.1:p.Glu102Ter