Canonical Allele Identifier: CA226500

Gene: RPE65

Linked Data

• ClinVar Variation Id: 29873
• ClinVar RCV Id: RCV000022754 ; RCV000085161 ; RCV001054426 ; RCV003317042 ; RCV003764628
• dbSNP Id: rs62636300
• ExAC: 1:68897011 T / C
• gnomAD v2: 1-68897011-T-C
• gnomAD v4: 1-68431328-T-C
• MyVariant Identifiers: chr1:g.68897011T>C (hg19) ; chr1:g.68431328T>C (hg38)
• PubMed: PMID:14962443
• ERepo: CA226500/MONDO:0100368/120

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68431328T>C , CM000663.2:g.68431328T>C	GRCh38
NC_000001.10:g.68897011T>C , CM000663.1:g.68897011T>C	GRCh37
NC_000001.9:g.68669599T>C	NCBI36
NG_008472.1:g.23632A>G
NG_008472.2:g.23632A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1292A>G MANE Select	ENSP00000262340.5:p.Tyr431Cys
ENST00000262340.5:c.1292A>G	ENSP00000262340.5:p.Tyr431Cys
NM_000329.2:c.1292A>G	NP_000320.1:p.Tyr431Cys
XM_017002027.1:c.1016A>G	XP_016857516.1:p.Tyr339Cys
NM_000329.3:c.1292A>G MANE Select	NP_000320.1:p.Tyr431Cys