Canonical Allele Identifier: CA226589

Gene: RPE65

Linked Data

• ClinVar Variation Id: 29872
• ClinVar RCV Id: RCV000022753 ; RCV000085231 ; RCV002513174 ; RCV002490403 ; RCV003764627
• dbSNP Id: rs61752904
• gnomAD v3: 1-68439033-T-A
• gnomAD v4: 1-68439033-T-A
• MyVariant Identifiers: chr1:g.68904716T>A (hg19) ; chr1:g.68439033T>A (hg38)
• ERepo: CA226589/MONDO:0100368/120
• PubMed: PMID:14962443

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68439033T>A , CM000663.2:g.68439033T>A	GRCh38
NC_000001.10:g.68904716T>A , CM000663.1:g.68904716T>A	GRCh37
NC_000001.9:g.68677304T>A	NCBI36
NG_008472.1:g.15927A>T
NG_008472.2:g.15927A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.907A>T MANE Select	ENSP00000262340.5:p.Lys303Ter
ENST00000262340.5:c.907A>T	ENSP00000262340.5:p.Lys303Ter
NM_000329.2:c.907A>T	NP_000320.1:p.Lys303Ter
XM_017002027.1:c.631A>T	XP_016857516.1:p.Lys211Ter
NM_000329.3:c.907A>T MANE Select	NP_000320.1:p.Lys303Ter