Canonical Allele Identifier: CA902588

Gene: RPE65

Linked Data

• ClinVar Variation Id: 374497
• ClinVar RCV Id: RCV000416243 ; RCV000528380 ; RCV000787883 ; RCV001249416 ; RCV001275339 ; RCV002466496 ; RCV003470371 ; RCV003889879
• dbSNP Id: rs368088025
• ExAC: 1:68912508 G / A
• gnomAD v2: 1-68912508-G-A
• gnomAD v3: 1-68446825-G-A
• gnomAD v4: 1-68446825-G-A
• MyVariant Identifiers: chr1:g.68912508G>A (hg19) ; chr1:g.68446825G>A (hg38)
• ERepo: CA902588/MONDO:0100368/120

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68446825G>A , CM000663.2:g.68446825G>A	GRCh38
NC_000001.10:g.68912508G>A , CM000663.1:g.68912508G>A	GRCh37
NC_000001.9:g.68685096G>A	NCBI36
NG_008472.1:g.8135C>T
NG_008472.2:g.8135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.130C>T MANE Select	ENSP00000262340.5:p.Arg44Ter
ENST00000262340.5:c.130C>T	ENSP00000262340.5:p.Arg44Ter
NM_000329.2:c.130C>T	NP_000320.1:p.Arg44Ter
XM_017002027.1:c.-32+1799C>T	XP_016857516.1:n.-32+1799C>T
NM_000329.3:c.130C>T MANE Select	NP_000320.1:p.Arg44Ter