Canonical Allele Identifier: CA340742798
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 801495
ClinVar RCV Id: RCV000986327 RCV001858636
dbSNP Id: rs1571158755
MyVariant Identifiers: chr1:g.68897154C>T (hg19) chr1:g.68431471C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431471C>T , CM000663.2:g.68431471C>T GRCh38
NC_000001.10:g.68897154C>T , CM000663.1:g.68897154C>T GRCh37
NC_000001.9:g.68669742C>T NCBI36
NG_008472.1:g.23489G>A
NG_008472.2:g.23489G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1243G>A MANE Select ENSP00000262340.5:p.Ala415Thr
ENST00000262340.5:c.1243G>A ENSP00000262340.5:p.Ala415Thr
NM_000329.2:c.1243G>A NP_000320.1:p.Ala415Thr
XM_017002027.1:c.967G>A XP_016857516.1:p.Ala323Thr
NM_000329.3:c.1243G>A MANE Select NP_000320.1:p.Ala415Thr
Search 100 bp 5'
Search 100 bp 3'