Canonical Allele Identifier: CA902554

Gene: RPE65

Linked Data

• ClinVar Variation Id: 298024
• ClinVar RCV Id: RCV000271691 ; RCV000384862 ; RCV001419413
• dbSNP Id: rs372620785
• ExAC: 1:68910545 G / A
• gnomAD v2: 1-68910545-G-A
• gnomAD v3: 1-68444862-G-A
• gnomAD v4: 1-68444862-G-A
• MyVariant Identifiers: chr1:g.68910545G>A (hg19) ; chr1:g.68444862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444862G>A , CM000663.2:g.68444862G>A	GRCh38
NC_000001.10:g.68910545G>A , CM000663.1:g.68910545G>A	GRCh37
NC_000001.9:g.68683133G>A	NCBI36
NG_008472.1:g.10098C>T
NG_008472.2:g.10098C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.267C>T MANE Select	ENSP00000262340.5:p.Tyr89=
ENST00000262340.5:c.267C>T	ENSP00000262340.5:p.Tyr89=
NM_000329.2:c.267C>T	NP_000320.1:p.Tyr89=
XM_017002027.1:c.-10C>T	XP_016857516.1:n.-10C>T
NM_000329.3:c.267C>T MANE Select	NP_000320.1:p.Tyr89=