Canonical Allele Identifier: CA226545

Gene: RPE65

Linked Data

• ClinVar Variation Id: 98866
• ClinVar RCV Id: RCV000085195 ; RCV000538669 ; RCV000986332 ; RCV001275332 ; RCV002490740 ; RCV003242981 ; RCV003888467 ; RCV003764794
• dbSNP Id: rs61752877
• ExAC: 1:68910339 G / A
• gnomAD v2: 1-68910339-G-A
• gnomAD v3: 1-68444656-G-A
• gnomAD v4: 1-68444656-G-A
• MyVariant Identifiers: chr1:g.68910339G>A (hg19) ; chr1:g.68444656G>A (hg38)
• ERepo: CA226545/MONDO:0100368/120

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444656G>A , CM000663.2:g.68444656G>A	GRCh38
NC_000001.10:g.68910339G>A , CM000663.1:g.68910339G>A	GRCh37
NC_000001.9:g.68682927G>A	NCBI36
NG_008472.1:g.10304C>T
NG_008472.2:g.10304C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.370C>T MANE Select	ENSP00000262340.5:p.Arg124Ter
ENST00000262340.5:c.370C>T	ENSP00000262340.5:p.Arg124Ter
NM_000329.2:c.370C>T	NP_000320.1:p.Arg124Ter
XM_017002027.1:c.94C>T	XP_016857516.1:p.Arg32Ter
NM_000329.3:c.370C>T MANE Select	NP_000320.1:p.Arg124Ter