Canonical Allele Identifier: CA340742913
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1213916
ClinVar RCV Id: RCV001591858
dbSNP Id: rs1235881190
gnomAD v3: 1-68431485-G-T
gnomAD v4: 1-68431485-G-T
MyVariant Identifiers: chr1:g.68897168G>T (hg19) chr1:g.68431485G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431485G>T , CM000663.2:g.68431485G>T GRCh38
NC_000001.10:g.68897168G>T , CM000663.1:g.68897168G>T GRCh37
NC_000001.9:g.68669756G>T NCBI36
NG_008472.1:g.23475C>A
NG_008472.2:g.23475C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1229C>A MANE Select ENSP00000262340.5:p.Ser410Ter
ENST00000262340.5:c.1229C>A ENSP00000262340.5:p.Ser410Ter
NM_000329.2:c.1229C>A NP_000320.1:p.Ser410Ter
XM_017002027.1:c.953C>A XP_016857516.1:p.Ser318Ter
NM_000329.3:c.1229C>A MANE Select NP_000320.1:p.Ser410Ter
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