Canonical Allele Identifier: CA10610323
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 298018
ClinVar RCV Id: RCV000346182 RCV000382165
dbSNP Id: rs886046509
MyVariant Identifiers: chr1:g.68896812C>T (hg19) chr1:g.68431129C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431129C>T , CM000663.2:g.68431129C>T GRCh38
NC_000001.10:g.68896812C>T , CM000663.1:g.68896812C>T GRCh37
NC_000001.9:g.68669400C>T NCBI36
NG_008472.1:g.23831G>A
NG_008472.2:g.23831G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1386G>A MANE Select ENSP00000262340.5:p.Glu462=
ENST00000262340.5:c.1386G>A ENSP00000262340.5:p.Glu462=
NM_000329.2:c.1386G>A NP_000320.1:p.Glu462=
XM_017002027.1:c.1110G>A XP_016857516.1:p.Glu370=
NM_000329.3:c.1386G>A MANE Select NP_000320.1:p.Glu462=
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