Canonical Allele Identifier: CA226509

Gene: RPE65

Linked Data

• ClinVar Variation Id: 13116
• ClinVar RCV Id: RCV000013995 ; RCV000085169 ; RCV001304649 ; RCV003114190
• dbSNP Id: rs62637004
• gnomAD v2: 1-68896843-A-C
• gnomAD v3: 1-68431160-A-C
• gnomAD v4: 1-68431160-A-C
• MyVariant Identifiers: chr1:g.68896843A>C (hg19) ; chr1:g.68431160A>C (hg38)
• PubMed: PMID:9501220

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68431160A>C , CM000663.2:g.68431160A>C	GRCh38
NC_000001.10:g.68896843A>C , CM000663.1:g.68896843A>C	GRCh37
NC_000001.9:g.68669431A>C	NCBI36
NG_008472.1:g.23800T>G
NG_008472.2:g.23800T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1355T>G MANE Select	ENSP00000262340.5:p.Val452Gly
ENST00000262340.5:c.1355T>G	ENSP00000262340.5:p.Val452Gly
NM_000329.2:c.1355T>G	NP_000320.1:p.Val452Gly
XM_017002027.1:c.1079T>G	XP_016857516.1:p.Val360Gly
NM_000329.3:c.1355T>G MANE Select	NP_000320.1:p.Val452Gly