Canonical Allele Identifier: CA226577

Gene: RPE65

Linked Data

• ClinVar Variation Id: 13114
• ClinVar RCV Id: RCV000013993 ; RCV000085219 ; RCV001236263 ; RCV001376448 ; RCV001831567 ; RCV003460467
• dbSNP Id: rs61752895
• ExAC: 1:68905269 G / A
• gnomAD v2: 1-68905269-G-A
• gnomAD v3: 1-68439586-G-A
• gnomAD v4: 1-68439586-G-A
• MyVariant Identifiers: chr1:g.68905269G>A (hg19) ; chr1:g.68439586G>A (hg38)
• ERepo: CA226577/MONDO:0100368/120
• PubMed: PMID:9326927

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68439586G>A , CM000663.2:g.68439586G>A	GRCh38
NC_000001.10:g.68905269G>A , CM000663.1:g.68905269G>A	GRCh37
NC_000001.9:g.68677857G>A	NCBI36
NG_008472.1:g.15374C>T
NG_008472.2:g.15374C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.700C>T MANE Select	ENSP00000262340.5:p.Arg234Ter
ENST00000262340.5:c.700C>T	ENSP00000262340.5:p.Arg234Ter
NM_000329.2:c.700C>T	NP_000320.1:p.Arg234Ter
XM_017002027.1:c.424C>T	XP_016857516.1:p.Arg142Ter
NM_000329.3:c.700C>T MANE Select	NP_000320.1:p.Arg234Ter