Canonical Allele Identifier: CA226589
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 29872
ClinVar RCV Id: RCV000022753 RCV000085231 RCV002490403 RCV002513174
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)
PubMed: PMID:14962443
ERepo: CA226589/MONDO:0100368/120
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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
Search 100 bp 5'
Search 100 bp 3'