Canonical Allele Identifier: CA340742110
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1486592
ClinVar RCV Id: RCV002003708
dbSNP Id: rs1645823028
gnomAD v4: 1-68431135-C-A
MyVariant Identifiers: chr1:g.68896818C>A (hg19) chr1:g.68431135C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431135C>A , CM000663.2:g.68431135C>A GRCh38
NC_000001.10:g.68896818C>A , CM000663.1:g.68896818C>A GRCh37
NC_000001.9:g.68669406C>A NCBI36
NG_008472.1:g.23825G>T
NG_008472.2:g.23825G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1380G>T MANE Select ENSP00000262340.5:p.Trp460Cys
ENST00000262340.5:c.1380G>T ENSP00000262340.5:p.Trp460Cys
NM_000329.2:c.1380G>T NP_000320.1:p.Trp460Cys
XM_017002027.1:c.1104G>T XP_016857516.1:p.Trp368Cys
NM_000329.3:c.1380G>T MANE Select NP_000320.1:p.Trp460Cys
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