Canonical Allele Identifier: CA10603953

Gene: RPE65

Linked Data

• ClinVar Variation Id: 281715
• ClinVar RCV Id: RCV000288725 ; RCV002519096 ; RCV003765588
• dbSNP Id: rs886042220
• gnomAD v2: 1-68910481-G-A
• gnomAD v3: 1-68444798-G-A
• gnomAD v4: 1-68444798-G-A
• COSMIC: COSM2240542
• MyVariant Identifiers: chr1:g.68910481G>A (hg19) ; chr1:g.68444798G>A (hg38)
• ERepo: CA10603953/MONDO:0100368/120

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444798G>A , CM000663.2:g.68444798G>A	GRCh38
NC_000001.10:g.68910481G>A , CM000663.1:g.68910481G>A	GRCh37
NC_000001.9:g.68683069G>A	NCBI36
NG_008472.1:g.10162C>T
NG_008472.2:g.10162C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.331C>T MANE Select	ENSP00000262340.5:p.Pro111Ser
ENST00000262340.5:c.331C>T	ENSP00000262340.5:p.Pro111Ser
NM_000329.2:c.331C>T	NP_000320.1:p.Pro111Ser
XM_017002027.1:c.55C>T	XP_016857516.1:p.Pro19Ser
NM_000329.3:c.331C>T MANE Select	NP_000320.1:p.Pro111Ser