Canonical Allele Identifier: CA226576

Gene: RPE65

Linked Data

• ClinVar Variation Id: 98888
• ClinVar RCV Id: RCV000085218 ; RCV001218527 ; RCV001250672 ; RCV002222384 ; RCV003764796
• dbSNP Id: rs61751277
• ExAC: 1:68914336 A / G
• gnomAD v2: 1-68914336-A-G
• gnomAD v3: 1-68448653-A-G
• gnomAD v4: 1-68448653-A-G
• MyVariant Identifiers: chr1:g.68914336A>G (hg19) ; chr1:g.68448653A>G (hg38)
• ERepo: CA226576/MONDO:0100368/120

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68448653A>G , CM000663.2:g.68448653A>G	GRCh38
NC_000001.10:g.68914336A>G , CM000663.1:g.68914336A>G	GRCh37
NC_000001.9:g.68686924A>G	NCBI36
NG_008472.1:g.6307T>C
NG_008472.2:g.6307T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.65T>C MANE Select	ENSP00000262340.5:p.Leu22Pro
ENST00000262340.5:c.65T>C	ENSP00000262340.5:p.Leu22Pro
NM_000329.2:c.65T>C	NP_000320.1:p.Leu22Pro
XM_017002027.1:c.-61T>C	XP_016857516.1:n.-61T>C
NM_000329.3:c.65T>C MANE Select	NP_000320.1:p.Leu22Pro