Canonical Allele Identifier: CA340747862

Gene: RPE65

Linked Data

• ClinVar Variation Id: 467827
• ClinVar RCV Id: RCV000542372 ; RCV000754974 ; RCV003470756 ; RCV003767007
• dbSNP Id: rs1191496583
• gnomAD v2: 1-68910290-C-T
• gnomAD v3: 1-68444607-C-T
• gnomAD v4: 1-68444607-C-T
• MyVariant Identifiers: chr1:g.68910290C>T (hg19) ; chr1:g.68444607C>T (hg38)
• ERepo: CA340747862/MONDO:0100368/120

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444607C>T , CM000663.2:g.68444607C>T	GRCh38
NC_000001.10:g.68910290C>T , CM000663.1:g.68910290C>T	GRCh37
NC_000001.9:g.68682878C>T	NCBI36
NG_008472.1:g.10353G>A
NG_008472.2:g.10353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.419G>A MANE Select	ENSP00000262340.5:p.Gly140Glu
ENST00000262340.5:c.419G>A	ENSP00000262340.5:p.Gly140Glu
NM_000329.2:c.419G>A	NP_000320.1:p.Gly140Glu
XM_017002027.1:c.143G>A	XP_016857516.1:p.Gly48Glu
NM_000329.3:c.419G>A MANE Select	NP_000320.1:p.Gly140Glu