Canonical Allele Identifier: CA23564286
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1372592
ClinVar RCV Id: RCV001873096
dbSNP Id: rs199613555
gnomAD v4: 1-68431479-G-A
MyVariant Identifiers: chr1:g.68897162G>A (hg19) chr1:g.68431479G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431479G>A , CM000663.2:g.68431479G>A GRCh38
NC_000001.10:g.68897162G>A , CM000663.1:g.68897162G>A GRCh37
NC_000001.9:g.68669750G>A NCBI36
NG_008472.1:g.23481C>T
NG_008472.2:g.23481C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1235C>T MANE Select ENSP00000262340.5:p.Pro412Leu
ENST00000262340.5:c.1235C>T ENSP00000262340.5:p.Pro412Leu
NM_000329.2:c.1235C>T NP_000320.1:p.Pro412Leu
XM_017002027.1:c.959C>T XP_016857516.1:p.Pro320Leu
NM_000329.3:c.1235C>T MANE Select NP_000320.1:p.Pro412Leu
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