Canonical Allele Identifier: CA418276137
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1571014
ClinVar RCV Id: RCV002205769
dbSNP Id: rs2100805075
MyVariant Identifiers: chr1:g.68895516C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429833C>T , CM000663.2:g.68429833C>T GRCh38
NC_000001.10:g.68895516C>T , CM000663.1:g.68895516C>T GRCh37
NC_000001.9:g.68668104C>T NCBI36
NG_008472.1:g.25127G>A
NG_008472.2:g.25127G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1545G>A MANE Select ENSP00000262340.5:p.Arg515=
ENST00000262340.5:c.1545G>A ENSP00000262340.5:p.Arg515=
NM_000329.2:c.1545G>A NP_000320.1:p.Arg515=
XM_017002027.1:c.1269G>A XP_016857516.1:p.Arg423=
NM_000329.3:c.1545G>A MANE Select NP_000320.1:p.Arg515=
Search 100 bp 5'
Search 100 bp 3'